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PREPARED BY OMIMA ZIDAN
GENETIC SUMMARY
Definition
Autosome all chromosome other than X and Y chromosome
Hemizygous gene on one chromosome there is no counterpart on the opposite

chromosome
Heterozygous two allele are different

Homozygous two allele are similar
Genotype genetic constitution of person
Phenotype clinical manifestation of genotype
Dominant gene manifest clinically if heterozygous or homozygous
Recessive gene manifest clinically if only homozygous
Co-dominant gene two dominant gene expressed clinically together
Mutation permanent changes in DNA
Hereditary disorder disorder derived from one parents
Familial disorder hereditary disorder transmitted in germ line through generation
Congenital disorder :
-some of congenital disease not genetic like : congenital syphilis
-not all genetic disease are congenital like : Huntington’s disease
Genetic disorder classification into :

1. Single gene disorder (Mandelian disorder )
2. Complex multigenic disorder
3. Cytogenetic disorder
⚪SINGLE GENE DISORDER
Autosomal dominant disorder Autosomal recessive disorder X-linked disorder
-Mutation in gene responsible for -Mutation in gene responsible -Mutation in X-chromosome.

structure protein and regulatory for Enzymatic protein.
protein. -Male are affected
-Female carrier only
-onset of clinical feature at later -Onset clinical at early in life
age.
-Variable expression -Uniform expression
-both & affected
Disease: Disease: Disease :

1. Neurofibromatosis 1. Cystic fibrosis of 1. Duchene muscle
2. Polycystic kidney disease pancreas dystrophy
3. Familial polyposis coli 2. Phenylketonuria 2. Haemophilia
4. Von Willbrand disease 3. Lysosomal storage 3. Chronic
5. Marfan syndrome disease granulomatous
6. Ehler danlos syndrome 4. Wilson’s disease disease
7. Achondroplasia 5. Sickle cell anemia 4. G6PD deficiency
8. Familial 6. Hemochromatosis 5. Wiskott Aldrich
hypercholesterolemia 7. Galactosemia disease
9. Osteogenesis imperficta 8. Alkaptonuria
10. Heredity spherocytosis
Y-Linked inheritance :
_gene passed from father to
son only, daughters not
affected.
Disease :
1. Hypertrichosis pinnae
(Excessive hair on ear)
Marfan syndrome Ehler danlos syndrome Familial Neurofibromatosis
hypercholesterolemia
-AD disorder -AD disorder -AD disorder -AD disorder
-Mutation in structure -Mutation in structure -Mutation in regulatory -Mutation in
protein (Fibrilin FBN1) protein (collagen synthesis) protein . regulatory protein
LDL RECEPTOR -Benign tumour of
peripheral nerve.
Morphology: Morphology : If heterozygous NF type I:
1. Skeletal 1. Hyperextensibility Asymptomatic ,most %90cases
abnormalities (high skin common , Xanthomas -Mutation in Ch. 17.
arched palate, 2. Hyperflexible & along tendon, MI in old -Multiple
slender body, Hypermobile joint age. pedunculated
hyperextensibility of nodules .
joint, sever If homozygous Not -Pigment skin (Cafe
kyphoscoliosis) common, five fold lait spots)
elevate in LDL in -pigmented iris (Lisch
2. Ocular plasma, from birth , nodules)
changes(Ectopia Xanthomas in -increase risk of
lentis ) childhood, MI in young myeloid leukaemia.
before 20 Y.
NF type II:
3. Cardiovascular -Rare
lesion(Aortic -mutation in Ch.22
dissection, -Bilateral tumour of
aneurysm dilation, 8th C.N (Acoustic
floppy valve neuromas)
syndrome) hearing loss.
Phenylketonuria
-AR disorder
-Lake Phenyl alanine hydroxylase enzyme.
-Accumulation phenylalanine
Clinical feature:
1. Bad odor urine
2. Mental retardation
3. Neurological abnormalities, Seizures
4. Decrease in skin and hair pigmentation.
Treated by restriction of phenylalanine in early life.

Cri du chat syndrome deletion of short arm of Ch5
Retinoblastoma deletion of long arm of ch13
Wilm’s tumour deletion of short arm of Ch. 11
Complex multigenic disorder more common than Mendelian and chromosomal disorder.
DOWN SYNDROME PATAU SYNDROME EDWARDS KLINETER TURNER’S

SYNDROME SYNDROME SYNDROME
Trisomy 21 Trisomy 13 Trisomy 18 47XXY 45XO
Male with more Monosomy
than one X Ch.
Clinical feature: Clinical feature: Clinical feature: Clinical feature : Clinical
1. Craniofacial : 1. Small 1. Sever 1.Tall stature feature:
(flat face, flat head mental 2.Hypogonadism 1.Female
occipital, 2. Small or retardatio , infertility hypogonadism
epicanthal missing n 3.Atrophic testis .
fold.) eye 2. Small face 4.Gynecomastia 2.Short
2. Mental 3. Bilateral 3. Prominent stature
retardation cleft occipital 3.Co-arctation
3. ASD,VSD 4. Polydactyl 4. Lower set of aorta
4. Repeated y ear 4.Primary
chest 5. Abnormal 5. Hip amenorrhea
infection genitalia abduction 5.Failure
5. Lymphoblasti 6. Mental 6. Flexion breast
c leukemia retardatio deformity development.
6. Alzheimer’s n of finger 6.Webbed
disease 7. Die few 7. VSD and neck.
7. Men sterile wks. after horseshoe
8. Simian birth kidney.
crease 8. Rocker
bottom
feet.

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PREPARED BY OMIMA ZIDAN

Hemizygous gene on one chromosome there is no counterpart on the opposite

Heterozygous two allele are different

Dominant gene manifest clinically if heterozygous or homozygous

Recessive gene manifest clinically if only homozygous

Co-dominant gene two dominant gene expressed clinically together

Mutation permanent changes in DNA

Hereditary disorder disorder derived from one parents

Familial disorder hereditary disorder transmitted in germ line through generation

-not all genetic disease are congenital like : Huntington’s disease

Genetic disorder classification into :

Autosomal dominant disorder Autosomal recessive disorder X-linked disorder

-Mutation in gene responsible for -Mutation in gene responsible -Mutation in X-chromosome.

Disease: Disease: Disease :

Treated by restriction of phenylalanine in early life.

Retinoblastoma deletion of long arm of ch13

Wilm’s tumour deletion of short arm of Ch. 11

DOWN SYNDROME PATAU SYNDROME EDWARDS KLINETER TURNER’S

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