Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A

We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray analysis. The 17p12 microduplication was approximately 1.32 ...

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Bibliographic Details
Main Authors: Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim
Format: Article
Language:English
Published: SpringerOpen 2015-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
CMT1A
DMD
PMP22
Combined microduplications
Dystrophin gene
Array comparative genomic hybridization (array CGH)
Chromosomal microarray
Online Access:http://www.sciencedirect.com/science/article/pii/S111086301400130X

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http://www.sciencedirect.com/science/article/pii/S111086301400130X

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