De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

Abstract Background Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental...

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Bibliographic Details
Main Authors: Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Subjects:
Chromosome 7q36
Genomic rearrangements
Chromosomal microarray
Chromosomal disorders
Online Access:http://link.springer.com/article/10.1186/s12881-017-0482-8

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http://link.springer.com/article/10.1186/s12881-017-0482-8

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