Genetic Testing in Pediatrics — Flashcards

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

The features of a chromosome 22q11 microdeletion may be remembered with the mnemonic "CATCH 22": C: _____A: Abnormal faciesT: Thymic aplasia C: Conotruncal abnormalities (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch) H: Hypocalcemia (lack of parathyroids)

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

What is the mode of diagnosis of Duchenne muscular dystrophy?_____

Monosomy 1p36 is associated with _____rocephaly.

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

Maternal PKU may present with _____-cephaly, intellectual disability, growth retardation, and congenital heart defects in the infant

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