Am J Med Genet. 1991 Mar 15;38(4):532-4.

Interstitial 15q deletion without a classic Prader-Willi phenotype.

Galán F, Aguilar MS, González J, Clemente F, Sánchez R, Tapia M, Moya M.

Source

Departamento de Pediatría, Universidad de Alicante, Spain.

Abstract

We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, congenital heart defect, neurologic anomaly, deafness, renal anomaly, and bifid uvula. The patient has a de novo proximal interstitial deletion of chromosome 15 reaching to band q14, larger than that usually seen in Prader-Willi and Angelman syndromes.

PMID:: 2063892; [PubMed - indexed for MEDLINE]

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Cited by 4 PubMed Central articles

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome. [Orphanet J Rare Dis. 2011]
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A. Orphanet J Rare Dis. 2011 Apr 19; 6:17. Epub 2011 Apr 19.
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype. [Am J Med Genet A. 2010]
An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.
Butler MG, Bittel DC, Kibiryeva N, Cooley LD, Yu S. Am J Med Genet A. 2010 Feb; 152A(2):404-8.
A boy with developmental delay and a maternally inherited deletion in 15q11q13. [J Med Genet. 1996]
A boy with developmental delay and a maternally inherited deletion in 15q11q13.
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