Literature DB >> 17163527

A patient with duplication (7)(p22.1pter) characterized by array-CGH.

Laila Zahed1, Tiziano Pramparo, Chantal Farra, Mohammad Mikati, Orsetta Zuffardi.   

Abstract

Approximately 40 patients with terminal duplication of the distal short arm of chromosome 7 have been reported, the smallest being dup(7)(p21). We report here on a patient with a smaller duplication, dup(7)(p22.1), detected on G-banding and characterized by array-CGH. We establish phenotype-karyotype correlations with the reported patients with other 7p duplications. (c) 2006 Wiley-Liss, Inc

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Year:  2007        PMID: 17163527     DOI: 10.1002/ajmg.a.31511

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

1.  De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.

Authors:  Achandira M Udayakumar; Watfa Al-Mamari; Abeer Al-Sayegh; Adila Al-Kindy
Journal:  Sultan Qaboos Univ Med J       Date:  2015-08-24

2.  Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Authors:  Veronica Goitia; Marcial Oquendo; Robert Stratton
Journal:  Case Rep Genet       Date:  2015-03-29

3.  Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1.

Authors:  Sabrina C Burn; Kali Swift; Maria Palmquist
Journal:  Case Rep Genet       Date:  2018-02-11
  3 in total

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