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

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–karyotyp...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-01, Vol.143A (2), p.168-171
Main Authors: Zahed, Laila, Pramparo, Tiziano, Farra, Chantal, Mikati, Mohammad, Zuffardi, Orsetta
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
chromosome 7
Chromosome Banding - methods
Chromosomes, Human, Pair 7 - genetics
Craniofacial Abnormalities - genetics
Craniofacial Abnormalities - pathology
dup(p22)
duplication
Gene Duplication
Humans
Infant
Infant, Low Birth Weight
Infant, Newborn
Intellectual Disability - genetics
Intellectual Disability - pathology
Karyotyping
Male
Medical genetics
Medical sciences
Nucleic Acid Hybridization - methods
Phenotype
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Summary: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. © 2006 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31511