Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F13%3A10193817" target="_blank" >RIV/00216208:11130/13:10193817 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/13:10193817

Result on the web

<a href="http://dx.doi.org/10.1016/j.gene.2012.12.027" target="_blank" >http://dx.doi.org/10.1016/j.gene.2012.12.027</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.gene.2012.12.027" target="_blank" >10.1016/j.gene.2012.12.027</a>

Result language

angličtina

Original language name

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15

Original language description

Microdeletions spanning 2p14-p15 have recently been described in two patients with developmental and speech delay and intellectual disability but no congenital malformations or severe facial dysmorphism. We report a 4-year-old boy with a de novo 3.7 Mb long deletion encompassing the region deleted in the previous cases. The patient had clinical features partly consistent with the published cases including intellectual disability, absent speech, microcephaly, long face, bulbous nasal tip and thin upper lip, but his overall clinical picture was more severe compared to the published patients. The identification of this additional patient and a detailed analysis of deletions identified in various patient cohorts and in normal individuals support the existence of a new rare microdeletion syndrome in 2p14-p15. Its critical region is in the vicinity of but clearly separate from the minimal region deleted in the well established 2p15-p16.1 microdeletion syndrome. A thorough comparison of the d

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Gene

ISSN

0378-1119

e-ISSN

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Volume of the periodical

516

Issue of the periodical within the volume

1

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

4

Pages from-to

158-161

UT code for WoS article

000315367500024

EID of the result in the Scopus database

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