Distal 22q11.2 Microduplication
نویسندگان
چکیده
منابع مشابه
Distal 22q11.2 Microduplication
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal...
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The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the cur...
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ژورنال
عنوان ژورنال: Child Neurology Open
سال: 2017
ISSN: 2329-048X,2329-048X
DOI: 10.1177/2329048x17737651