11p15.4 Microdeletion Associates with Hemihypertrophy

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 repo...

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Detalles Bibliográficos
Autores principales: Puvabanditsin, Surasak, Sadiq, Mehrin, Jacob, Marianne, Jalil, Maaz, Cabrera, Kenya, Choudry, Omer, Mehta, Rajeev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232786/
https://www.ncbi.nlm.nih.gov/pubmed/30510815
http://dx.doi.org/10.1155/2018/2746347
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author Puvabanditsin, Surasak
Sadiq, Mehrin
Jacob, Marianne
Jalil, Maaz
Cabrera, Kenya
Choudry, Omer
Mehta, Rajeev
author_facet Puvabanditsin, Surasak
Sadiq, Mehrin
Jacob, Marianne
Jalil, Maaz
Cabrera, Kenya
Choudry, Omer
Mehta, Rajeev
author_sort Puvabanditsin, Surasak
collection PubMed
description 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.
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spelling pubmed-62327862018-12-03 11p15.4 Microdeletion Associates with Hemihypertrophy Puvabanditsin, Surasak Sadiq, Mehrin Jacob, Marianne Jalil, Maaz Cabrera, Kenya Choudry, Omer Mehta, Rajeev Case Rep Genet Case Report 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. Hindawi 2018-10-30 /pmc/articles/PMC6232786/ /pubmed/30510815 http://dx.doi.org/10.1155/2018/2746347 Text en Copyright © 2018 Surasak Puvabanditsin et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Puvabanditsin, Surasak
Sadiq, Mehrin
Jacob, Marianne
Jalil, Maaz
Cabrera, Kenya
Choudry, Omer
Mehta, Rajeev
11p15.4 Microdeletion Associates with Hemihypertrophy
title 11p15.4 Microdeletion Associates with Hemihypertrophy
title_full 11p15.4 Microdeletion Associates with Hemihypertrophy
title_fullStr 11p15.4 Microdeletion Associates with Hemihypertrophy
title_full_unstemmed 11p15.4 Microdeletion Associates with Hemihypertrophy
title_short 11p15.4 Microdeletion Associates with Hemihypertrophy
title_sort 11p15.4 microdeletion associates with hemihypertrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232786/
https://www.ncbi.nlm.nih.gov/pubmed/30510815
http://dx.doi.org/10.1155/2018/2746347
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