Single Gene Disorders — Flashcards

Which metabolic storage disorder is characterised by presence of collodion baby?_____

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

Werdnig-Hoffmann (SMA Type 1) is caused by an _____ inherited mutation in the SMN1 gene on chromosome 5q, which factilitates the assembly of snRNPs

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

Monosomy 1p36 is associated with _____rocephaly.

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis

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

In a small fraction (normal cytogenetic studies targeted evaluation of DiGeorge locus genes, such as _____, may be indicated

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____