AustralieFrV1, Main, Exploration, bibRecord, 004A98

Clinical Comparison of Overlapping Deletions of 19p13.3

Identifieur interne : 004A98 ( Main/Exploration ); précédent : 004A97; suivant : 004A99

Clinical Comparison of Overlapping Deletions of 19p13.3

Auteurs : Hiba Risheg [États-Unis] ; Romela Pasion [États-Unis] ; Stephanie Sacharow [États-Unis] ; Virginia Proud [États-Unis] ; Ladonna Immken [États-Unis] ; Stuart Schwartz [États-Unis] ; Jim H. Tepperberg [États-Unis] ; Peter Papenhausen [États-Unis] ; Tiong Y. Tan [Australie] ; Joris Andrieux [France] ; Ghislaine Plessis [France] ; David J. Amor [Australie] ; Elisabeth A. Keitges [États-Unis]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2013-05.

RBID : ISTEX:39F7872C2C37BC7FD09550989D9C92198C48D06F

Descripteurs français

Wicri :
- topic : Base de données, Génétique.

English descriptors

Abstract

We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792 Kb to 1.0 Mb and included a common region arr [hg19] 19p13.3 (3,814,392–4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non‐coding RNA's MIR637 and SNORDU37. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established. © 2013 Wiley Periodicals, Inc.

Url:

https://api.istex.fr/document/39F7872C2C37BC7FD09550989D9C92198C48D06F/fulltext/pdf

DOI: 10.1002/ajmg.a.35923

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">We present three patients with overlapping interstitial deletions of 19p13.3 identified by high resolution SNP microarray analysis. All three had a similar phenotype characterized by intellectual disability or developmental delay, structural heart abnormalities, large head relative to height and weight or macrocephaly, and minor facial anomalies. Deletion sizes ranged from 792 Kb to 1.0 Mb and included a common region arr [hg19] 19p13.3 (3,814,392–4,136,989), containing eight genes: ZFR2, ATCAY, NMRK2, DAPK3, EEF2, PIAS4, ZBTB7A, MAP2K2, and two non‐coding RNA's MIR637 and SNORDU37. The patient phenotypes were compared with three previous single patient reports with similar interstitial 19p13.3 deletions and six additional patients from the DECIPHER and ISCA databases to determine if a common haploinsufficient phenotype for the region can be established. © 2013 Wiley Periodicals, Inc.</div>
</front>
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Clinical Comparison of Overlapping Deletions of 19p13.3

Clinical Comparison of Overlapping Deletions of 19p13.3

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri