First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

Author:

Northup Jill K.,Wain Kären E.,Hawkins Judy C.,Matalon Reuben,Velagaleti Gopalrao V.N.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart defect;Baekvad-Hansen;Am J Med Genet Part A,2006

2. Reduced plasma and CSF gamma-aminobutyric acid in affective illness: Effect of lithium carbonate;Berrettini;Biol Psychiatry,1983

3. Association analysis of γ2 subunit of γ-Amniobutyric acid type A receptor polymorphisms with febrile seizures;Chou;Pediatr Res,2003

4. Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractual arachnodactyly;Courtens;Am J Med Genet,1998

5. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of arg to cys at codon 120 (R120C);Fluck;J Clin Endocr Metab,1998

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