Chromosomal Disorders — Flashcards

_____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects.

The findings in Patau Syndrome may be remembered with the 5'Ps- cleft Palate - holoP_____- Polydactyly- aPlasia cutis- Polycystic Kidney disease

Which genomic test would be helpful in evaluating suspected DiGeorge Syndrome?_____

Triangular facies, microcephaly and 5th finger clinodactyly is indicative of _____ syndrome.*ABCDEF?

WAGR syndrome is a combination of: 1. _____ 2. Aniridia (absence of iris) 3. Genital abnormalities 4. mental or motor Retardation

_____ syndrome is caused by a congenital microdeletion of chromosome 7q (long arm)

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 _____

The abnormality of _____ syndrome is arterio-hepatic dysplasia