2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patien...

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Bibliographic Details
Main Authors: Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2017-06-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Chromosome 2q37 deletion syndrome
Albright's hereditary osteodystrophy
Brachydactyly
Dilated cardiomyopathy
Array based comparative genomic hybridization
Online Access:http://e-apem.org/upload/pdf/apem-22-129.pdf

Internet

http://e-apem.org/upload/pdf/apem-22-129.pdf

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