PADMASHREE INSTITUTE OF NURSING

Seminar on
Embryological and fetal development, factors
influencing growth and development, genetic
patterns of common paediatric disorders

SUBMITTED TO: SUBMITTED BY:

PROF.MRS.BHIMA UMA MAHESHWARI, MARIA SAJU
VICE PRINCIPAL I YR MSc(N).
HOD OF PAEDIATRIC DEPT.

SUBMITTED ON:2/7/12

INTRODUCTION
Growth and development is a complex process.prenatal environment
is having much influnce of fetal development.in the time scale of the
pregnancy is important.when making reference to the age at which
various prenatal events happen.
TERMINOLOGIES
 GROWTH-the process of increasing in size
 DEVELOPMENT-the process of developing or being
developed
 PRENATAL-before birth
 FETUS-an unborn offspring of a mammal
 SPERM-semen
 OVOM-a mature female reproductive cell
 ZYGOTE-a diploid cell resulting from the fusion of two
haploid gametes; a fertilized ovum
 GAMETES-a mature haploid male or female germ cell
which is able to unite with another of the opposite sex in
sexual reproduction to form a zygote.
 SPERMATOZOON-the mature motile male sex cell of an
animal, by which the ovum is fertilized, typically having a
compact head and one or more long flagella for swimming.
 GAMETOGENESIS-the process in which cells undergo
meiosis to form gametes.
 OVULATION-discharge ova or ovules from the ovary
 LOCOMOTION-movement or the ability to move from one
place to another:
 EMBRYO-an unborn or unhatched offspring in the process
of development.
  SEGMENTATION-each of the parts into which something is
or may be divided:
 MORULA-a solid ball of cells resulting from division of a
fertilized ovum, and from which a blastula is formed
 TROPHOBLAST-a layer of tissue on the outside of a
mammalian blastula, supplying the embryo with
nourishment and later forming the major part of the
placenta.

OBJECTIVES
 General: at the end of the session students will Be able to
understand about embryological and fetal Development,factors
affecting growth and development and genetic patterns of
common pediatric disorders.
 Specific:at the end of the session students will be able to
-define gametogenesis,fertilisation
-explain the development of fertilised ovum
-describe the decidua,trophoblast and inner cell mass
-explain about the embryo,placenta,membranes,amniotic fluid and
umbilical cord
-describe fetal circulation
-explain the fetal physiology
-summarise the development of fetus
-explain factors influencing growth and development
-explain genetic patterns of common pediatric disorders
GAMETOGENESIS
The process involved in the maturation of two highly specialised
cells,spermatozoon in male and ovum in female is called as
gametogenesis.
FERTILISATION
Following ovulation ,which is about 0.15mm In diameter,passes into
uterine tube and is moved along towards the uterus.The ovum,having
no power of locomotion,is wafted along by he cilia and peristaltic
muscular contraction of the tube.At this time the cervix ,under the
influence of oestrogen ,secretes a flow of alkaline mucus that attracts
the spermatozoa
At intercourse about 300 millin sperm are deposited in the posterior
fornix of the vagina.Those that reach the loose cervical mucus
survive to propel themselves towards the uterine tubes while the
remainder are destroyed by the acid medium of the vagina.More will
die on the journey through the uterus and only thousands reach the
uterine tube where they meet the ovum ,usually in the ampulla.It is
only only during this journey that the sperm fnally become mature
and capable of releasing the enzyme hyaluronidase which allows
penetration of the zona pellucida and the cell membrane surrounding
the ovum.
Many sperm are needed for this to take place but only one will enter
the ovum.After this,the membrane is sealed to prevent entry of any
further sperm and the nuclei of the two cells fuse.The sperm and the
ovum each contribute half the complement of chromosomes to make a
total of 46.The sperm and ovum are known as the male and female
gamates ,and the fertilised ovum as the zygote.Neither sperm or ovum
can survive for longer than 2 or 3days andfertilisation is most likely to
occur when intercourse takes place not more than 48 hours before or
24 hours after ovulation.
DEVELOPMENT OF THE FERTILISED OVUM:
When the ovum has been fertilised,it continues its passage through the
uterine tube and reaches the uterus 3 or 4 days later.During this time
segmentation or cell division takes Place and fertilised ovum divides
into 2 cells,then into 4 ,8,16 and so on until a cluster of cells is formed
known as the morulla(mulberry).
These divisions occur quite slowly,about once every 12 hours.Next,a
fluid-filled cavity,or blastocele ,appears in the morula,which now
becomes known as the blastocyst.Around the outside of the
blastocyst t there is a single layer of cells known as the
trophoblast;the remaining cells are clumped together at one end
forming the inner cell mass.The trophoblast will form placenta and
chorion,while the inner cell mass will become the fetus,amnion and
umblical cord.
When the blastocyst first tumbles into the uterus ,it lies free for 2 or 3
more days.The trophoblast,especially the part which lies over the
inner cell mass,hen become quite sticky and adhere to the
endometrium.It begins to secrete substances that digest the
endometrial cells ,allowing the blastocyst to become embedded in the
endometrium.Embedding,sometimes known as nidation(nesting),is
normally complete by the 11th day after ovulation and the
endometrium closes over it completely,the only evidence of the
presence of the blastocyst being a small bulge on the surface.
THE DECIDUAS
This is the name to the endometrium during pregnancy
Three layers are found:
1. The basal layer
2. The functional layer
3. The compact layer
The basal layer :the layer lies between immediately above the
myometrium.It remains unchanged in itself but regenerates the new
endometrium during the puerperium
The functional layer:this layer consist of tortuous glands ,which are
rich in secretions.The advantage of this is that it provides a secure
anchorage for the placenta and allows it acess to nutrition and oxygen
but as soon as the baby is born ,separation can occur.
The compact layer:this layer forms the surface of the decidua and is
composed of closely packed stroma cells and the necks of the glands.
The decidua underneath the blastocyst is termed the basal
decidua,that which covers it is the capsular decidua and
the remainder is called the parietal decidua.
The trophoblast:
Small projections begin to appear all over the surface of the
blastocyst,becoming most profilic at the area of contact.These
trophoblastic cells differentiate into layers;the outer
syncytiotrophoblast,the inner cytotrophoblast and below this a layer
of mesoderm or primitive mesenchyme
THE INNER CELL MASS
While the trophoblast is developing into the placenta ,which will not
nourish the fetus ,the inner cell mass is forming the fetus itself.The
cells differentiate inner cell mass into 3 layers,each of which will
form particular parts of the fetus.
The ectoderm:this layer mainly forms the skin and nervous
system.The mesoder:bones,and muscles and also the heart and blood
vessels including those in the placenta
The endoderm:mucus membranes and glands.The 3 layers together
are known as the embyonic plate.
The amniotic cavity:
This cavity lies on the side of the ectoderm.It is filled with fluid
gradually enlarges and folds around the embryo to enclose it.
The yolk sac:
The yolk sac lies on the side of the endoderm and provides
nourishment for the embryo until the trophoblast is sufficiently
developed to take over.Part of it contributes to the formation of the
primitive gut.
THE EMBRYO
This name is applied to the developing offspring after implantation
and until 8 weeks after conception.During the embryonic period all
the organs and systems of the body are laid down in rudimentary
forms so that at its completion they have simply to grow and mature
for a further 7 months.The conception as a fetus during this time.
THE PLACENTA
Placenta is afleshy structure that develops mostly from foetal
chorionic tissue and maternal decidua during pregnancy.It lies
implanted on the uterine wall.It is connected with fetus through
umblical cord in the amniotic cavity.It maintains pregnancy and
carrier vital fetal functions.
STRUCTURE OF PLACENTA:As the embryo grows larger the
amnion enlarges to accommodate both the embryo-fetus and its
surrounding amniotic fluid.
The fluid is faintly alkaline watery content of the amniotic sac in
which embryo-fetus grow.It is primarily of fetal origin with maternal
contribution via extra placental membranes. The amount of fluid
increases weekly ,so that at term there is normally between 800 to
1200ml of transparent ,slight yellow liquid. It is disc like spongy
fleshy structure ,thick at the centre and thin at edge.IT WEIGHS
500gm.
It has two surfaces
A)fetal Surfaces:the amnion covering the fetal surface of the placenta
gives it a white shiny appearance.Branches of umblical vein and
arteries are visible and the umbilical cord is attached at or near the
centre.
B)maternal Surface:maternal blood gives This surface a dark red
colour and part of the basal decidua will have been separated with it.
The surface is arranged in about 20 lobes.
Attachments:placenta is attached to upper part of posterior or
anteriorwall of uterine cavity near fundus.
Functions:
 Respiration
 Nutrition
 Storage
 Excretion and protection
MEMBRANE
At the time of implantation, two fetal membranes, which will
surround the developing embryo ,begin to form
The fetal membranes are
- Amnion
- Chorionic
Chorion:this is a ,friable membrane derived from the trophoblast.It
forms the base of the placenta
Amnion:this is a smooth,tough,translucent membrane derived from
inner cell mass. It is thought to have a role in the formation of the
amniotic fluid.
AMNIOTIC FLUID
As the embryo grows larger the amnion enlarges to accommodate
both the embryo-fetus and its surrounding amniotic fluid.The fluid is
faintly alkaline watery content of the amniotic sac in which embryo-
fetus grow.It is primarily of fetal origin with maternal contribution
via extra placental membranes. The amount of fluid increases
weekly ,so that at term there is normally between 800 to 1200ml of
transparent ,slight yellow liquid.
Functions:
-the cushions like appearance help the fetus from trauma
-it allows freedom of movements for musculoskeletal development
Helps to maintain a constant body temperature
UMBLICAL CORD
The umbilical cord or funis forms the connecting link between the
fetus and the placenta through which the fetal blood flows to and form
the placenta. It extends from the fetal umbilicus to the fetal surface of
the placenta.
Functions:
 Life line between placenta and foetus supplying oxygen and
nutrients to fetus and disposing waste products.
 Exchange of fluid and electrolyte between umbilical vessels and
amniotic fluid.
FETAL CIRCULATION
The key to understanding the fetal circulation is the fact that oxygen
is derived from the placenta. In addition, the placenta is the source of
nutrition and the site of elimination of waste.
 There are several temporary structures in addition to the
placenta itself and the umbilical cord and these enable the fetal
circulation to take place while allowing for the changes at birth.
The umbilical vein: the vein leads from the umbilical cord to the
underside of the liver and carries blood rich in oxygen and nutrients .it
has a branch that joins the portal vein and supplies the liver
The ductus venosus(from a vein to a vein):
This connects umbilical vein to the inferior vena cava. At the point
the blood mixes with deoxygenated blood returning from the lower
parts of the body. Thus the blood throughout the body is at best
partially oxygenated.
The foramen ovale(oval opening):this is a temporary opening
between the atria that allows the majority of blood entering from the
inferior vena cava to pass across into the left atrium. The reason for
this diversion is that the blood does not need to pass through the lungs
to collect oxygen.
The ductus arteriosus(from an artery to an artery):
This leads from the bifurcation of the pulmonary artery to the
descending aorta, entering it just beyond the point where the
subclavian and carotid arteries leave.
The hypogastric arteries:
These branch off from the internal iliac arteries and become the
umbilical arteries when they enter the umbilical cord.They return
blood to the placenta.
The blood takes about half minute to circulate and takes the
following course. From the placenta ,blood passes along the umbilical
vein through the abdominal wall to the under surface of the liver. This
is the only vessel in the fetus that carries unmixed blood. The ductus
venosus carries blood to the inferior venacava where it mixes the
blood from the lower body. From here the blood passes into the right
atrium and most of it is directed across through the foramen ovale
into the left atrium. Following its normal route it enters the left
ventricle and passes into the aorta. The heart and brain each receives a
supply of relatively well-oxygenated blood since the coronary and
carotid arteries are early branches from the aorta. The arms also
benefit via the subclavian arteries ,which is why they are more
developed than the legs at birth.
Blood collected from the upper parts of the body returns to the right
atrium in the superior vena cava. This blood is depleted of oxygen and
nutrients. This stream of blood crosses the stream entering from the
inferior vena cava and passes into the right ventricle. The two streams
remain separate because of the shape of the atrium but there is a
mixing of 25% of the blood,allowing a little oxygen and food to be
taken to the lungs through the pulmonary artery.The remainder passes
through the ductus arteriosus to the aorta.Blood continues along the
aorta and, although low in oxygen, has sufficient to supply the
remaining body organs and legs
The internal iliac arteries lead to the hypogastric arteries ,which return
blood to the placenta via the umbilical arteries .The remaining blood
supplies the lower limbs and returns to the inferior vena cava.
FETAL PHYSIOLOGY:
Nutrition:there are three stages of fetal nutrition following
fertilization.
Absorption :in the early post fertilisation period ,the nutrition is stored
in the deutoplasm within the cytoplasm and the very little extra
nutrition needed is supplied from the tubal and uterine secretion.
Histotrophic transfer:following nidation and before the establishment
of the utero –placental circulation,the nutrition is derived
From the eroded decidua by diffusion and later on from the stagnant
maternal blood in the trophoblastic lacunae.
Haematotrophic :with the establishment of the fetal
circulation,nutrition is obtained by active and passive transfer from
the 3rd week onwards.`
Two thirds of the total calcium,three fifth of the total protiens and
four fifths of the total iron are drained from the mother during the last
3 months.
Fetal blood:haematopoiesis is demonstrated in the embryonic phase
first in the yolk sac by 14th day .By 10th week,the liver becomes the
major site.The enlargement of the early fetal liver is due to
erythropoietic function.
Gradually,the red cell production sites extend to the spleen and
bonemarrow and near term,the bone marrow becomes the major site
of cell production.
Leucocytes and fetal defence:Leucocyte appear after 2 months of
gestation.The WBC rises to about 15-20 thousand per cu
mm.Maternal immunoglobulin crosses the placenta from 12th week
onwards to give the fetus a passive immunity which increases with
the increase in gestation period.
Cardio vascular system:
The first system to function in the developing human is the
cardiovascular system.Blood vessel formation begins early in the 3rd
week
The CVS must form early to bring nourishment and oxygen from the
mother to embryo.The FHR is 120 to 160 beats/minute and the fetal
cardiac output is approximately 350 to 400ml/kg/min
Respiratory system:
The fetal lungs do not function until after delivery.The lungs originate
from a bud growing out of the pharynx,which divides and subdivides
repeatedly to form the bronchial tree.The process continues until
about eight years of age when the full number of bronchioles and
alveoli will have developed.At term lungs contain 100ml of lung fluid
.About one third of this is expelled during delivery and the rest is
absorbed and
Carried away by the lymphatic and blood vessels as air takes its place
The Central Nervous System: This is derived from the ectoderm. It
folds inwards to form the neutral tube ,which is then covered over by
skin. This process is occasionally incomplete ,leading to open neural
tube defects.
The fetus is able to percieve strong light and to hear external
sounds.Periods of wakefulness and sleep occur.
The renal tract:
The kidneys begin to function and the fetus passes urine from 10
weeks of gestation .The urine is very dilute and doesnot constitute
a route for excretion ,since the mother elliminates waste products
,which cross the placenta.
The Liver:The fetal liver is comparatively large in size,occupying
much of the abdominal cavity,especially in the early months.From the
third to the six month,the liver is responsible for the formation of red
blood cells,after which they are produced in the red bone marrow and
the spleen.
The Ailmentary Tract:The digesy=tive tract is non-functional before
birth .It forms from the yolk sac as a straight tube first,later growing
into the base of the umbilical cord and finally rotating back into the
abdomen.
Sucking and swallowing of amniotic fluid begins about 12 weeks
after conception.This is normally retained in the gut until after birth
when it is passed as the first stool of the newborn.
THE SKIN:The fetus is covered with a white ,creamy substances
called vernix caseosa from 18th week onwards.At 20th week the fetus
will be covered with a fine downy hair called lanugo and at the same
timethe head hair and eyebrows begin to form.Fingernails develop
from about 10th week and toenails from about 18th week.

Summary of development of fetus:

 0-4 weeks after conception
-rapid growth
-formation of the embryonic plate
-primitive central nervous system
-heart develops and begins to beat
-limb buds form
 4-8week
-very rapid cell division

-head and facial features develop

-all major organs laid down in primitive form
-external genitalia present but sex not present
-distinguishable
-early movements
-visible on ultrasound from 6 weeks
 8-12weeks
-eyelids fuse
-kidneys begin to function and the fetus passes urine from 10weeks
-fetal circulation functioning properly
-Sucking and swallowing begin
-sex present
-moves freely(not felt by mothers)
-some primitive reflexes present
  12-16weeks
-rapid skeletal development-visible on x-ray
-meconium present in gut
-lanugo appears
-nasal septum and palate fuse
 16-20weeks
-quickening-mother feels fetal movements
-fetal heart heard on auscultation
-vernix caseosa appears
-fingernails can be seen
-skin cells begin to be renewed

 20-24weeks
-most organs become capable of functioning
-periods of sleep and activity
-responds to sound
-skin red and wrinkled
 24-28weeks

-periods of sleep and activity

-responds to sound
-skin red and wrinkled
24-28weeks
-survival may be expected if born
-eyelids reopen
-respiratory movements
28-32weeks
-begins to store fat and iron
-tests descend into scrotum
-lanugo disappears from face
-skin becomes paler and less wrinkled
-survival may be expected if born
-eyelids reopen
-respiratory movements
 28-32weeks
-begins to store fat and iron
-tests descend into scrotum
-lanugo disappears from face
-skin becomes paler and less wrinkled
 32-36weeks
-Increased fat makes the body more rounded
-lanugo disappears from body
-head hair lengthens
-nails reach tips of fingers
-ear cartilage soft
-plantar creases visible
 36-40 weeks after conception(38-42 weeks after LMP)
-term is reached and birth is due
-contours rounded
-skull firm
FACTORS INFLUENCING GROWTH
AND DEVELOPMENT
Growth and development not one but a combination of many factors,
all independent. The relatively typical pattern of growth and
development is influenced by heredity and environment.
 HEREDITY:
The heredity of a man and women determines that of their children.
Embryonic life begins with the cytoplasm and the nucleus of the
fertilized ovum, genetically determined by both parents.
 Sex:
-sex is determined at conception. After birth, the male infant is both
longer and heavier than the female infant.
-Boys maintain this superiority until about 11 years of age.
-Girls mature earlier,reach the period of accelerated growth earlier
than boys,and are then taller on the average.
-during prepubertal ,boys are again taller than girls.
-bone development is more advanced in girls than in boys.
-earlier eruption of the permanent teeth in girls.
 Racial and national characteristics
-distinguishing characteristics called racial or subracial prehistoric
humans.
-as too height,tall and short examples exist among all races and
subraces.
-according to nations children characteristics change, some may be
taller or smaller. Due to poverty some changes may happen.
-eventhough with the influence of good nutrition and environment
,these children may not achieve the same height as their peers because
of the differences in growth patterns.
 ENVIRONMENT:
 Prenatal environment:intrauterine environment is good means
while the fetus reaching the stage of viability early delivery may
make it possible to improve infant’s environment.
Harmful prenatal factors:mother is having
-nutritional deficiencies due to socioeconomic standing
-mechanical problems leads to malposition in utero
-metabolic endocrine disorders eg:DM
-radiation or cancer treatment.
-infectious diseaseseg:toxoplasmosis,syphilis
 Postnatal environment:
1.External environment
-cultural influence :groups of human beings create their own
cultures,where as each individual is influenced or shaped by the
culture of which he or she is a part.
-Socioeconomic status of the family:the environment of the lower
socioeconomic groups may be less favorable than that of the middle
and upper groups
-nutrition:nutrition is related to both the quantitative and qualitative
supply of food elements-protiens,fats,carbohydrates,minerals and
vitamins.If these essential nutrients are received in the balanced
amounts necessary to sustain life ,to allow for energy
expenditure,and to promote growth and development,a child is well
nourished.
-climate and season:climatic variations influence the infant’s
health.summer heat ,however,is important refrigeration of food and
extermination of flies and other insects.infants in such families are
prone to suffer diarrhea with subsequent dehydration.
-deviations from positive health:these may be caused by hereditary or
congenital conditions,illness,or injury and may result in altered levels
of growth and development.
-exercise:exercise ,by increasing the circulation ,promotes physiologic
activity and stimulates muscular development.fresh air and moderate
sunshine favor health and growth.
2.Internal environment:
 Intelligence:the intelligence is correlated to some degree with
physical development-that is,the child of high intelligence is
likely to be taller and better developed than is the less gifted
child.Also intelligence influences mental and social
development.
 Hormonal influences:
1. Somatotropic hormone(STH):it is utilized largly during
childhood.its major effect is on linear growth in hieght.An
excess of growth hormone causes gigantism;a lack results in
dwarfism.
2. Thyroid hormones(thyroxine(T4)and triiodothyronine(T3),
thyrotropic hormone(TH):these hormones stimulate the
 general metabolism and therefore are necessary for growth and
development after birth.an excess produces linear growth and
deficiency produses cretinism,mental retardation
3. The adrinocorticotropic hormone(ACTH):it stimulates
hypothalamus to secrete gona dotropic hormones and it
stimulates the interstitial cells of the testes to produce
Testosterone and the interstitial cells of the ovaries to produce
estrogen.These sequence of events occurs mostly during adolescence.
Testosterone stimulates the development of secondary sexual
characteristics and the production of spermatozoa in young men.
Estrogen stimulates the development of secondary sexual
characteristics and the production of ova in young women.
 Emotions:relationship with significant other
persons,mother,father,siblings,peers,and teachers,among
others,play a vital role in the emotional,social and intellectual
development of the child
 MATERNAL FACTORS:
 PREGNANCY WEIGHT : Low or high causes Low or high
birth weight. Pregnancy weight below 40kg causes poor fetal
growth.
 PREGNANCY WEIGHT GAIN:poor weight gain causes law
birth weight .High weight gain and obesity causes high birth
weight.
 Age :birth weight tends to decline with higher age.
 Parity:first born is 100gm smaller than second birth weight,rises
with higher parity.
  Nutritional:length and severity of maternal nutrition
deprivation(malnutrition) affect birth.
 Uteroplacental circulation and insufficiency:
Normal circulation ensures supply of oxygen and nutrients of fetus
necessary for fetal growth. Uteroplacental ,circulatory insufficiency
all commonly seen in pregnancy induced hypertension, essential
hypertension, hemorrhages at placental bed, maternal anaemia,small
placenta, cord abnormalities, multiple placenta, multiple pregnancy,
maternal smoking and alcoholism and higher attitude causes poor
fetal growth.
 FETAL BIOLOGICAL FACTORS:
Fetal endocrine functions,intra uterine infections,congenital
malformation affect foetal weight.
 TERATOGENS:
Environmental substances or exposures that cause adverse effects
known human teratogens.
 Drugs
 Chemicals
 Infectious
 Exposure
 Certain maternal conditions
 HORMONAL INFLUENCES:
 Thyroxine:human fetus secretes thyroxine from the 12th week of
gestation onwards.its deficiency significantly retards the skeletal
maturation of the fetus
  Insulin:insulin stimulates fetal growth.In mothers with overt or
latent diabetes ,the fetus is usually large with excessive birth
weight.As the maternal blood sugar level is high ,the fetal blood
sugar is also elevated.
 Growth Hormone:
Fetal or maternal growth hormone is not essential for fetal growth in
utero.

GENETIC PATTERNS OF
COMMON PAEDIATRIC
DISORDERS
CHROMOSOMAL ABNORMALITIES
1) ABNORMALITIES OF CHROMOSOMAL STRUCTURE:
Chromosomes are subject to structural alterations resulting from
breakage and rearrangement. It has been recognized as a significant
source of genetic abnormalities.
a)Cri-du-chat or cat’s cry syndrome[46,XX or XY, B(5) p- ]:
It is a chromosome deletion syndrome resulting from loss of small
arm of chromosome B(5)
b) Fragile X Syndrome:
It is an X linked dominant condition in which the X chromosome
displays breaks and gaps in its terminal portions
c) Chromosome instability syndromes:
This is heterogeneous group of genetic disorders characterized by
high frequency of chromosome breakage observed in vitro.
2) ABNORMALITIES OF CHROMOSOME NUMBER
Numeric chromosome abnormality occurs whenever chromosomes
are added or deleted. The addition of one or more chromosome to
each pair will result in triploid chromosome with 69 chromosomes
(46+23) or tetraploid cells with 92 chromosomes (46+23+23) and so
on.
AUTOSOMAL ANEUPLOIDIES
 TRISOMY G (21) [DOWN’S SYNDROME]: It is the most
common aneuploidy , formerly known as mongolism, but later
name as Down’s syndrome. Karyotype : [47,XX,G(21)]
  a) TRISOMY E (16-18) [EDWARD’S SYNDROME]: It was first
described by J.H. Edward in 1960.It is a common trisomy affecting
mostly chromosome 18.
SEX CHROMOSOME ANEUPLOIDIES
Alterations in number may also involve the sex chromosome.
KLINEFELTER’S SYNDROME(47,XXY): It is the most common
of all sex chromosome
aneuploidies. It is characterized by multiple X and one Y
chromosome
JACOBS SYNDROME(47,XYY):
It was reported in the early sixties by Patricia Jacobs, a scottish
cytogeneticist.
c) TURNER SYNDROME (45,XO):It was originally described
clinically as ovarian dysgenesis. There is no pre pubertal growth spurt
and girls with turner syndrome are generally infertile
3) SINGLE GENE DISORDER
 A single gene alteration is a minute abnormality that will not
change chromosome number or structure, but can result in extensive
physical and mental disorders.

AUTOSOMAL INHERITANCE PATTERNS:

 Autosomal Dominant Inheritance
 Autosomal recessive Inheritance
SEX LINKED INHERITANCE PATTERN
 X linked Dominant Inheritance
 X linked recessive inheritance
AUTOSOMAL INHERITANCE PATTERN
 Autosomal Dominant Inheritance- Mendelian inheritance
pattern in which only one affected gene is needed for an individual
to express the disease or trait.
a) ACHONDROPLASIA: It is the most form of dwarfism. The
chromosome location is 4p 16.3. The adult stature is 48-52 inches
b) MARFAN SYNDROME: It is the disorder of connective tissue
involving triad of ocular, skeletal and cardiovascular abnormalities.
The average life span remains 40-50 years. The chromosome location
is 15q 21.1
Autosomal recessive Inheritance: Mendelian inheritance pattern that
requires two affected genes for an individual to express the disease or
trait.
a) CYSTIC FIBROSIS: it is the most common lethal disease
characterized by abnormal exocrine gland function, chronic
pulmonary disease, excessive salt in sweat. The chromosomal
location is 7q 31.2
b) CYSTINURIA: It is one of the various disorders of amino acid
metabolism and diagnosed by decreased intestinal absorption and
increased urinary excretion of cystine, lysine, arginine and ornithine.
c) SICKLE CELL DISEASE: It is a chronic, hemolytic anemia
resulting from production of abnormal hemoglobin (Hb) with reduced
oxygen carrying capacity.The chromosome location is 11p 15.5
SEX LINKED INHERITANCE PATTERN
a) X linked Dominant Inheritance: this type of inheritance is
uncommon. The main characteristics are:-
 Both males and females are affected.
 Affected men do not transmit the defective allele to their sons.
b) X linked recessive inheritance: in females, the alleles of an X
linked recessive gene behave as the alleles of any autosomal
recessive gene. The effect of the abnormal allele is “hidden” by the
normal allele (dominant).Therefore the females who are homozygous
for the defective allele will express the phenotypes whereas the
heterozygous will be the asymptomatic carrier.

Journal abstract
1)Noonan, Jacqueline A.Down Syndrome.August 1987;80/8:1016-
1023
ABSTRACT
We discuss the ethical ,psychosocial,economic and medical
dimensions of the treatment and management of a child with Down’s
syndrome and a congenital heart defect.
2) Shapiro, Steven D.Down’s syndrome:significance of the family
history.August 1981;74/8:973-975.
ABSTRACT
Certain aspects of the family history may suggest that a family is at
risk for the inherited form of Down’s syndrome .There is a series of
questions that may be asked when there is a series of questions that
may be asked when there is a positive family history for Down’s
syndrome to aid in determining whether a family is at risk for
recurrence of Down’s syndrome.

CONCLUSION
Every individual spends the first nine months (266 days or 38 weeks)
of its life with in the womb of its mother. During this period it
develops from a small one-celled structure to an organism having
billions of cells. Numerous tissues and organs are formed and come to
function in perfect harmony. The most spectacular of these changes
occur in the first two months; the unborn baby acquires its main
organs and just begins to be recognizable as human. During these two
months we call the developing individual an embryo. From the third
month until birth we call it a fetus.

BIBLIOGRAPHY
 Dorothy R.Marlow.Text book of paediatric nursing.6th
edition.Philadelphia:Elsevier;2004.
 Diane M.Fraser.Margaret A.Myles text book for midwives.14th
edition.China:Churchil Livingstone;2003.
 D.C.Dutta.The text book of obstetrics.6th
edition.Culcutta:Central publications;2004.
  Suraj Gupte.The short text book of pediatrics.10th
edition.NewDelhi:Jaypee Brothers;2004
 Keith L Moore,T.V.N Persuad.Before we are born.7th
edition.Philadelphia:Saunders;2008.

JOURNALS
 Noonan, Jacqueline A.Down Syndrome.August
1987;80/8:1016-1023.
 Shapiro, Steven D.Down’s syndrome:significance of the family
history.August 1981;74/8:973-975.