Case of 12q24.31 Interstitial Deletion in Association with Intellectual Disability, Dysmorphic Features and Short Stature
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00179906%3A_____%2F13%3A10140160" target="_blank" >RIV/00179906:_____/13:10140160 - isvavai.cz</a>
Result on the web
—
DOI - Digital Object Identifier
—
Alternative languages
Result language
angličtina
Original language name
Case of 12q24.31 Interstitial Deletion in Association with Intellectual Disability, Dysmorphic Features and Short Stature
Original language description
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
Czech name
—
Czech description
—
Classification
Type
D - Article in proceedings
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
—
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Article name in the collection
World Academy of Science, Engineering and Technology
ISBN
—
ISSN
2010-376X
e-ISSN
—
Number of pages
3
Pages from-to
649-651
Publisher name
WASET
Place of publication
Las Cruses USA
Event location
Zurich
Event date
Jan 14, 2013
Type of event by nationality
WRD - Celosvětová akce
UT code for WoS article
—