Genetic and Metabolic Disorders — Flashcards

The 5A's of down syndrome are:A_____Atresia (Duodenal)Atrioventricular septal defectAlzheimers (early onset)AML/ALL

Laurence Moon Bardet Biedil syndrome is characterised by Polydactyly, Obesity, Retinitis pigmentosa, Male _____gonadism, hypertension and Mental retardation

What is the mode of inheritence of acrodermatitis enteropathica?_____

Deficiency of P450 oxidoreductase (POR) results in congenital anomalies collectively referred to as _____ syndrome.

What is the age of presentation of Wolfram syndrome?_____

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

_____ or more lisch nodules are used to confirm the diagnosis of neurofibromatosis

Genetic testing for evidence of _____ mutations is positive in a large majority of neonates with benign familial neonatal (focal-clonic) seizures

Which disease is characterized by an inability to eliminate Epstein-Barr virus (EBV), eventually leading to fulminant infectious mononucleosis and the development of B-cell tumors?_____

What is the mode of inheritence of Joubert syndrome?_____