Case of 12q24.31 Interstitial Deletion in Association with Intellectual Disability, Dysmorphic Features and Short Stature

Kód výsledku v IS VaVaI

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Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Case of 12q24.31 Interstitial Deletion in Association with Intellectual Disability, Dysmorphic Features and Short Stature

Popis výsledku v původním jazyce

Mental retardation occurs in 1-3% of the general population worldwide. In Czech Republic, about 3% of children are born annually with "major physical anomaly". Previously published reports of chromosomal aberrations in cohorts of mentally retarded patients have shown that many small aberrations are overlooked by conventional cytogenetic methods, such as G/C banding. Instead, the higher resolution level array-based comparative genomic hybridization (array CGH) can reveal novel submicroscopic deletions/duplications. Only four patients has been previously reported with a small interstitial deletions of band 12q24.31 (-q24.33) without other karyotypic anomalies (1)-(4). In this study a detailed clinical description, and molecular cytogenetic analysis of apatient with de novo 12q interstitial deletion is presented. The Agilent's Human Genome CGH Microarray 44K array revealed that subtelomere of 12q showed an interstitial hemizygous deletion: chr.12; 46XY, del (12)(q24.31). We offer compari

Název v anglickém jazyce

Case of 12q24.31 Interstitial Deletion in Association with Intellectual Disability, Dysmorphic Features and Short Stature

Popis výsledku anglicky

Mental retardation occurs in 1-3% of the general population worldwide. In Czech Republic, about 3% of children are born annually with "major physical anomaly". Previously published reports of chromosomal aberrations in cohorts of mentally retarded patients have shown that many small aberrations are overlooked by conventional cytogenetic methods, such as G/C banding. Instead, the higher resolution level array-based comparative genomic hybridization (array CGH) can reveal novel submicroscopic deletions/duplications. Only four patients has been previously reported with a small interstitial deletions of band 12q24.31 (-q24.33) without other karyotypic anomalies (1)-(4). In this study a detailed clinical description, and molecular cytogenetic analysis of apatient with de novo 12q interstitial deletion is presented. The Agilent's Human Genome CGH Microarray 44K array revealed that subtelomere of 12q showed an interstitial hemizygous deletion: chr.12; 46XY, del (12)(q24.31). We offer compari

Druh

D - Stať ve sborníku

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název statě ve sborníku

World Academy of Science, Engineering and Technology

ISBN

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ISSN

2010-376X

e-ISSN

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Počet stran výsledku

3

Strana od-do

649-651

Název nakladatele

WASET

Místo vydání

Las Cruses USA

Místo konání akce

Zurich

Datum konání akce

14. 1. 2013

Typ akce podle státní příslušnosti

WRD - Celosvětová akce

Kód UT WoS článku

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