11p15.4 Microdeletion Associates with Hemihypertrophy-Reference-Cited by-同舟云学术

11p15.4 Microdeletion Associates with Hemihypertrophy

Published:2018-10-30 Issue: Volume:2018 Page:1-5
ISSN:2090-6544
Container-title:Case Reports in Genetics
language:en
Short-container-title:Case Reports in Genetics

Author:

Puvabanditsin Surasak¹^ORCID,Sadiq Mehrin¹,Jacob Marianne¹,Jalil Maaz¹,Cabrera Kenya¹,Choudry Omer¹,Mehta Rajeev¹

Affiliation:

1. Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA

Abstract

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4). We report novel clinical findings of this rare genetic condition.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crig/2018/2746347.pdf

Reference10 articles.

1. A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

2. Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4

3. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

4. Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism

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