Genetics Diseases

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Features of Prader- Willi syndrome

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Mild to moderate mental retardation
Short stature, small hands and feet
Palpebral fissures almond shaped
Hypotonia and poor feeding
Compulsive overeating around age 2
Fair hair and skin color

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Features of Angelman syndrome

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Severe mental retardation
Inappropriate laughter
Seizures
Jerky gait
Happy puppet syndrome

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Inheritance of Prader-Willi syndrome

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Maternal imprinting
70% - deletion of non imprinted paternal 15q12gene
25% due to uniparental dysomy
5% imprinting center error

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Inheritance of Angelman syndrome

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Paternal imprinting
70% deletion in non imprinted maternal 15q12 gene
<5% due to Uniparental dysomy
20-30% due to E6-AP gene mutation or imprinting center error

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Features of Leber hereditary optic neuropathy

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Affects central vision due to death of optic nerve.
Approximately 95% of individuals have 1 of 3 point mutations in mitochondrial DNA.
Exhibits gender and age-dependent penetrance

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Phenotype of Achondroplasia

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Small stature, short limbs, large head, low nasal bride, lumbar lordosis, normal intelligence, trident hands

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Inheritance pattern of Achondroplasia

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Autosomal dominant

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Autosomal Dominant Diseases

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Polycystic kidney disease, Huntington, Neurofibromatosis, Marfan syndrome, Familial hypercholersterolemia, myotonic dystrophy, Acondroplasia

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Phenotype of Ehlers Danlos Syndrome

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Hyperextensible skin, Joint hypermobility, Skin fragility, excessive bruising, thin scars

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Inheritance patter of Ehlers-Danlos syndrome

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Locus Heterogeneity: Autosomal dominant, Autosomal recessive, X-linked recessive

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Phenotype of Osteogenesis imperfecta

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Perinatal lethal, large unmineralized skull, small thoracic cavity, short and deformed long bones, flattened veterbral bodies, undermineralized bones

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Inheritance pattern of Osteogenesis imperfecta

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Autosomal dominant

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Phenotype of Waardenburg syndrome

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White forelock, lateral displacement of canthi, heterochromia of iris,

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What diseases show Germline Mosaicism

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NF-I, Achondroplasia, Duchenne muscular dystrophy, Hemophilia A

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Phenotype of Neurofibromatosis 1

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Multiple benign fleshy tumors in the skin, cafe au lait spots, small benign tumors on the iris(lisch nodules)

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Diseases that show Age of Onset

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Huntington disease, Polycystic kidney disease, Alzheimer, Breast cancer

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Disease that show Pure dominant expression

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Huntington

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Phenotype of Familial Hypercholesterolemia

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Elevated plasma cholesterol, premature heart diseases due to atheromas, Xanthomas, Arcus corneae

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Inheritance pattern of Familial Hypercholesterolemia

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Autosomal dominant

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What diseases are X-linked Recessive?

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Hemophilia A, Duchenne Muscular Dystrophy

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Example of X-linked Dominanat Disease.

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Hypophasphatemic rickets

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Examples of Mitochondria diseases

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Leber hereditary optic neuropathy, Myclonic epilepsy with ragged red fibers(MERRF); Leigh syndrome and NARP; Deafness

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Uniparental Dysomy should be considered for what diseases?

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imprinting disorders: Angelman and Prader-willi(UPD 15) ;Beckwith-Wiedemann(UPD 11); Russell-Silver (UPD 7); Transient neonatal diabetes (UPD 6)

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Phenotype of Turner Syndrome

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Short stature; webbed neck; failure to develop secondary sex characteristics; ovarian failure due to streak gonads; Amenorrhea and infertility; coarctation of aorta; Structural kidney defects; short 4th and 5th digits; low hairline;

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Causes of Turner syndrome

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Meiotic nondisjunction, mitotic nondisjunction, centromere misdivision to form an isochromosome of Xq

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Phenotype of Klinefelter syndrome

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Gynecomastia, low IQ, Behavior problems, low self esteem, depression; infertility; low serum testosterone

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Karyotype of Klinefelter syndrome

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47 XXY

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Trisomy 13 causes what disease?

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Patau Syndrome

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Trisomy 18 causes what disease?

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Edward Syndrome

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Trisomy 21 causes what disease?

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Down Syndrome

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Phenotype of Patau Syndrome (Trisomy 13)

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Polydactyly, Holoprosencephaly; microcephaly; micropthalmia; mental retardation; cleft lip and palate; heart and urogenital anomalies; hearing loss

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Phenotype of Edward syndrome (Trisomy 18)

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Severe mental retardation; Micrognathia(small chin); small for gestational age; Hypertonia; Overlapping fingers; hearing loss; short sternum; heart defects

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Phenotype of Down syndrome (Trisomy 21)

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Short nose; low nasal brdige; epicanthal folds; upslanting eyes; brushfield spots; low set ears; small chin; high arched palate; tongue thrusting; moderate mental retardation; heart defects;

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What are the Genetic Origins of Down Syndrome?

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47,xX, +21 or 47, XY,+21;
Translocation Down syndrome;
Mosaic Trisomy 21;
Duplication of Down Syndrome critical region 21q22

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Phenotype of Wolf-Hirschhorn

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Mental and growth retardation; Hypertelorism; Cleft lip/Palate; Broad nasal bridge, microcephaly; Micrognathia, down-turned mouth; Heart defects, seizures

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Causes of Wolf-Hirschhorn

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Del(4)(p16)

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Phenotype of Cri-du-chat

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Profound Mental Retardation; hypotonia in infants, hypertonia in adults; Microcephaly, heart defects; Hypertelorism, retrognathia; epicanthal folds, round face

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Phenotype of DiGeorge syndrome

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Small mouth, round face, bulbous nose, down-slanting palpebral fissures; Cleft lip/pallet; learning disability and behavioral difficulties; Conotruncal heart defects, thymic hypoplasia, hypocalcemia

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Causes of DiGeorge syndrome

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22q11.2 Deletion;
deletion of 3000kb on chromosome 22

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Phenotype of Velocardiofacial Syndrome

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Learning disabilities; long narrow nose; cleft palate; long faces

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Causes of Velocardiofacial syndrome?

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22q11.2 Deletion;
deletion of 3000kb on chromosome 22

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Phenotype of Supernumerary der(22)t(11;22) Syndrome (Emanuel Syndrome)

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Severe intellectual disability; microcephaly; failure to thrive; ear anomalies; cleft or high-arched palate; micrognathia; kidney abnormalities; heart defects; genital abnormalities in males

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Phenotype of Fetal Alcohol Syndrome

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Growth Deficiency; short palpebral fissures; smooth philtrum; thin upper lip; brain malformations/neurological abnormalities; behavior problems

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Phenotype of Female Pseudohermaphroditism

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Two ovaries but external genitalia show degree of virilization

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Phenotype of male Pseudohermaphroditism

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Two testes, but external genitalia show degree of feminization

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Phenotype of True hermaphroditism

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Have both testicular and ovarian tissue in gonads

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Congenital Adrenal Hyperplasia

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Most common cause of ambiguous genitalia in females.
Cause by deficient or absence of enzymes in cholesterol cortisol pathway leading to excess testosterone

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Cause of Male Pseudohermaphroditism

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Androgen insensitivity due to defective or missing androgen receptor

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Holoprosencephaly

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Failure of midface and forebrain to develop completely; facial dysmorphism; developmental delay; caused by mutation in sonic hedgehog

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Phenotype of Beckwith-Wiedemann Syndrome

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Overgrowth syndrome; macroglossia; omphalocele/umbilical hernia; visceromegaly; hemihypertrohy; renal abnormalities

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Causes of Beckwith-Weidemann syndrome

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Uniparental Dysomy