Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

Abstract Background Small supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads to a rare chromosome disorder with distinctive clinical phenotypes, inc...

Full description

Bibliographic Details
Main Authors: Haiyu Li, Juan Du, Wen Li, Dehua Cheng, Wenbin He, Duo Yi, Bo Xiong, Shimin Yuan, Chaofeng Tu, Lanlan Meng, Aixiang Luo, Ge Lin, Guangxiu Lu, Yue-Qiu Tan
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Molecular Cytogenetics
Subjects:
Isodicentric 15
Partial octosomy of 15q
Mental retardation
Developmental delay
Hyperpigmentation
P gene
Online Access:http://link.springer.com/article/10.1186/s13039-018-0365-5

Similar Items

Similar Items