An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language...

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Main Authors: Trupti Kale, Melissa Philip
Format: Article
Language:English
Published: Hindawi Limited 2016-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2016/6046351
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spelling doaj-1a9a34717ea348d4b306844c46a90ac32020-11-25T00:49:53ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522016-01-01201610.1155/2016/60463516046351An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe MicrocephalyTrupti Kale0Melissa Philip1The Wright Center for Graduate Medical Education, 501 Madison Avenue, Scranton, PA 18510, USAThe Wright Center for Graduate Medical Education, 501 Madison Avenue, Scranton, PA 18510, USAInterstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.http://dx.doi.org/10.1155/2016/6046351
collection DOAJ
language English
format Article
sources DOAJ
author Trupti Kale
Melissa Philip
spellingShingle Trupti Kale
Melissa Philip
An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
Case Reports in Genetics
author_facet Trupti Kale
Melissa Philip
author_sort Trupti Kale
title An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
title_short An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
title_full An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
title_fullStr An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
title_full_unstemmed An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
title_sort interstitial deletion at 7q33-36.1 in a patient with intellectual disability, significant language delay, and severe microcephaly
publisher Hindawi Limited
series Case Reports in Genetics
issn 2090-6544
2090-6552
publishDate 2016-01-01
description Interstitial deletions of the distal 7q region are considered a rare entity. In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay. The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports. However, there are also a number of similarities among these cases as well. We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.
url http://dx.doi.org/10.1155/2016/6046351
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