Genetic Disorders Only

Patau Syndrome

Patau Syndrome

Meiotic nondisjunction causes Trisomy 13. May also be caused by Robertsonian translocation. Characterized by hypotonia

Edwards syndrome

Meiotic nondisjunction causes Trisomy 18. Characterized by distinctive facial features

Downs syndrome

Meiotic nondisjunction causes trisomy 21. Characterized by dysmorphic features

Klienfelter syndrome

XXY Karyotype due to nondisjunction. Characterized by mild

Turner syndrome

Aneuploidy

Trisomy X

95% maternal X. No physical abnormalities

Aneuploidy

XYY Karyotype. Taller

Reciprocal Translocation

Carriers are okay

Robertsonian Translocation

Q arms fuse

Cri-du-chat Deletion

Deletion

Charcot-Marie-Tooth Disease

Small duplication on Chromosome 17

Cystic fibrosis

Autosomal recessive mutation in CFTR (cystic fibrosis transmembrane conductance regulator). Common in European descent

Sickle Cell Anemia

Autosomal recessive mutation in HBB gene (Hemoglobin B). Common in African-Americans and Hispanic-Americans. Characterized by anemia

Marfan Syndrome

Autosomal dominant mutation in FBN1 gene (fibrillin-1) on Chromosome 15. Characterized by defective connective tissue

Achondroplasia

Autosomal dominant mutation in FGFR3 gene. Characterized by a defect in cartilage growth

Hemophilia A

X-linked recessive deficiency in factor VIII clotting cascade. Characterized by easy bruising and unexplained or excessive bleeding.

Hypohydrotic ectodermal dysplasia

X-linked recessive condition caused by mutations in EDA gene. Impairs development of hair

Huntington Disease

Autosomal dominant trinucleotide repeat mutation (CAG) in 5' translated region at 4p16.3 chromosome locus. Characterized by early onset

Myotonic dystrophy

Autosomal dominant trinucleotide repeat mutation (CTG) in 3' translated region at 19q13.3 chromosome locus. Characterized by progressive muscle weakness

Fragile X

X-Linked Dominant condition caused by CGC expansion and excessive methylation of FMR1 promoter. Characterized by intellectual disability

Beckwith-Wiedmann Syndrome

Chromosome 11 abnormality (20-30% with uniparental disomy

Prader-Willi syndrome

A genetic disorder caused by a deletion in the paternal 15q chromosome

Angelman Syndrome

A genetic disorder caused by a deletion in the maternal 15q chromosome

Neural tube defects

Birth defects such as spina bifida and anencephaly

Cleft lip/palate

A congenital malformation that increases in risk with affected relatives (first degree).

Pyloric stenosis

A congenital malformation characterized by a narrowing of the pylorus

Hypertension

High blood pressure

Type II diabetes

A form of diabetes characterized by insulin resistance

Retinoblastoma

A tumor suppressor mutation that can be inherited or occur sporadically

Sporadic cancers due to oncogenes

Cancer caused by somatic mutations in oncogenes