Single Gene Disorders — Flashcards

Flashcard 1: Which metabolic storage disorder is characterized by the presence of a collodion baby?

Answer: Gaucher disease type 2 (Perinatal lethal form)

Flashcard 2: X-linked adrenal hypoplasia is due to mutation of _____ gene on Xp21

Answer: DAX1

Flashcard 3: Werdnig-Hoffmann (SMA Type 1) is caused by an _____ mutation in the SMN1 gene on chromosome 5q; the SMN protein normally facilitates the assembly of snRNPs

Answer: autosomal recessive

Flashcard 4: Alagille syndrome is associated with mutations in _____ gene in 90% of patients

Answer: JAG1

Flashcard 5: Monosomy 1p36 syndrome is associated with what head circumference abnormality?

Answer: Microcephaly

Flashcard 6: Pearson syndrome is a mitochondrial inheritance disorder characterized by _____ insufficiency, pancytopenia, and lactic acidosis.

Answer: pancreatic

Flashcard 7: A(n) _____ immunoreactive trypsinogen may be indicative of cystic fibrosis

Answer: increased

Flashcard 8: In a small fraction of patients with normal cytogenetic studies, targeted evaluation of DiGeorge locus genes, such as _____, may be indicated.

Answer: TBX1

Flashcard 9: What is the most common genetic cause of intellectual disability (mental retardation)?

Answer: Down syndrome (Trisomy 21)

Extra: - Most common **genetic/chromosomal** cause: Down syndrome. - Most common **inherited** cause: Fragile X syndrome.

Flashcard 10: Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Answer: musty or mousy