De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitiv...

Teljes leírás

Elmentve itt :
Bibliográfiai részletek
Szerzők: Carter Jennifer
Zombor Melinda
Máté Adrienn
Sztriha László
Waters Jonathan J.
Dokumentumtípus: Cikk
Megjelent: Hindawi Publishing Corporation 2016
Sorozat:CASE REPORTS IN GENETICS 2016
doi:10.1155/2016/2501741

mtmt:3324479
Online Access:http://publicatio.bibl.u-szeged.hu/12876
Leíró adatok
Tartalmi kivonat:A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype.
Terjedelem/Fizikai jellemzők:Azonosító: 2501741-Terjedelem: 3. p.
ISSN:2090-6544

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