AUTOSOMAL

DOMINANT
DISEASES

Tuberous sclerosis

Marfan syndrome

Neurofibromatosis

Huntington's

Retinoblastoma

Waardenburg
syndrome

Myotonic dystrophy

Familial
hypercholestrolemia
(LDL receptor defect
Type IIa)

Polycystic kidney
disease

Von Hippel Lindau

Familial
adenomatous
polyposis and Peutz
Jeghers Syndrome

Polydactyly

Chondrodystrophy

Osteogenesis
Imperfecta (Except
Type VII)

CAH.

Congenital hepatic
fibrosis.

Cystic Fibrosis.

Cystinosis,
Cystinuria.

Dubin-Johnson
syndrome.

Endocardial
Fibroelastosis.

Familial
Mediterranean
Fever.

Fanconi Anemia.

Friedrech's Ataxia.

Gastroschisis.

Gaucher's

Hereditary
hemorrhagic
telengiactasia
(Osler-weber-rendu
syndrome)
Osteopetrosis Type
II (Adult type)
Hypokalemic Periodic
Paralysis

AUTOSOMAL
RECESSIVE
DISEASES

Abetalipoproteine
mia.

Acute fatty liver of

pregnancy.

Glanzman's
Thromasthenia.

Hereditory
spherocytosis

Alkaptonuria.

Hitchhikers thumb

Achondroplasia

Albinism

Erhler's Danlos
(vascular type)

Metachromatic
Leukodystrophy

Bernard-Soulier
syndrome.

Acute intermittent
porphyria

Bloom syndrome.

Hypertrophic
Obstructive
Cardiomyopathy
(HOCM)

Carpenter
syndrome.

Von Willebrand
Disease

Chediak-Higashi
syndrome.

GLYCOGEN
STORAGE
DISEASES
(AUTOSOMAL
RECESSIVE).

Hartnup Disease.

Krabbe Disease.

Leukocyte
Adhesion Defect.

Nieman Pick
Disease.

Hemophilia A and
B

Rotor syndrome.

Fabry's Disease

Shwaman
Diamond
syndrome.

Wiskott-Aldrich
Syndrome

Bruton's
Aggamaglobuline
mia

Situs Inversus.

Sickle cell Disease

and Trait.

Color Blindness

Tay-Sachs.

Thalasemia.

Complete
Androgen
Insensitivity

Werner syndrome.

Wilson's Disease.

Congenital
Aqueductal
stenosis
(hydrocephalus)

Xeroderma
pigmentosa.

Inherited
Nephrogenic
Diabetes Insipidus

X-LINKED
RECESSIVE
DISEASES

Lesch-Nyhan
Syndrome

Duchene Muscular
Dystrophy

Becker muscular
dystrophy

Hunter's disease.

Menkes Disease
(Kinky hair
syndrome)

Glucose 6
Phosphate

Dehydrogenase
Deficiency

X-LINKED DOMINANT
DISEASES
There's no homozygous
females (because of the
random inactivation of
one of the X
chromosomes).
The inheritance follows
one of two patterns:

1. Both males and

females are
affected and the
typical example is

X linked
hypophos
photemic
rickets.

2. Manifested only in
females and is
lethal in utero in
males. Examples
include

Incontinenta
pigmenti,
Focal dermal
hypoplasia,
Orofaciodigit
al syndrome.

MITOCHONDRIA
L DISEASES
This type of inheritance,
also known as maternal
inheritance, applies to
genes in mitochondrial
DNA. Because only egg
cells contribute
mitochondria to the
developing embryo, only
mothers can pass on
mitochondrial conditions
to their children (males
and females)

Diabetes mellitus
and deafness
(DAD Syndrome)

Male Infertility

Excessive hair
on the ear pinna
(Hypertrichosis
pinnae)

Leber's hereditary
optic neuropathy
(LHON)
Leigh syndrome,
subacute
sclerosing
encephalopathy
Neuropathy,
ataxia, retinitis
pigmentosa, and
ptosis (NARP
Syndrome)

ADPKD with PKD2 def.

Chromosome 5p- :
Cri-Du-Chat Syndrome.
Chromosome 5q:
APC gene Familial
adenomatous Polyposis

Retinitis
pigmentosa

Color blindness

Chromosome 6 :
Hemochromatosis.

XYY syndrome

Chromosome 7 :
Cystic Fibrosis.
Williams syndrome
CHROMOSOME 8
CMYC-Burkitt lymphoma

Myoneurogenic
gastrointestinal
encephalopathy
(MNGIE
Syndrome)

Chromosome 11p :
Sickle Cell disease.
Chromosome 11(short
arm):

Myoclonic Epilepsy
with Ragged Red
Fibers (MERRF
Syndrome)

Wilms tumor WT-11

Chromosome 12q :
Phynelketonuria.

Mitochondrial
myopathy,
encephalomyopath
y, lactic acidosis,
stroke-like ympto
ms. (MELAS
Syndrome)

Chromosome 13 :
Patau Syndrome.
Wilson Disease.
RB- Retinoblastoma gene
Chromosome 13q: RB
tumor supresor gene
Retinoblastoma

LIST OF Y LINKED
DISEASES:

CHROMOSOMAL
LINKED DISEASES

The Y chromosome is
relatively small and
contains very few genes,
there are relatively few Ylinked disorders.

Chromosome 3p:
VHL Von hippel lindau
syndrome

Chromosome 15 :
Angelman
Syndrome (band q12)
Prader-willi Syndrome
Tay-Sachs Disease.
Marfan syndrome

Chromosome 4
trinucleotide repeat CAG
Huntintons disease

Chromosome 16,16 :
ADULT Polycystic Kidney
Disease (PKD1, defect)

Chromosome 17p :
Celiac Disease.
Charcot-Marie-Tooth
Disease.
NF-1
Neurofibromatosis 1
Chromosome 18 :
Edward Syndrome.
Chromosome 21 :
Down Syndrome. 3
genetic variants
1. 3 full copies of 21, non
disjunction during
MEIOSIS I (95%)
2.Chromosomal
translocation
(Robertsonian) 14:21 in
3-4%

3. Mosaicism After
fertilization, 2 cell lines,
one with free trisomy and
one with normal
karyotype 1-3% occurs
during MITOSIS

MOST COMMON
AUTOSOMAL TRISOMIES

Chromosome 22 :
Digeorge Syndrome.
Neurofibromatosis
type 2 (22q).

18 EDWARDS
SYNDROME

Chromosome TP53
Li Fraumeni Sx

TRISOMY 16 (NEVER
ENCOUNTERED AT LIVE
BIRTHS)

CHROMOSOME X
Fragile X syndrome
X-Linked Agamma
globulinemia
Klinefelter Syndrome XXY

21 DOWN SYNDROME
(MOST COMMON
ABNORMALITY FOUND AT
THIRD TRIMESTER
AMNIOCENTESIS)

13 PATAU SYNDROME