Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death

Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death

Albeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature. Here, we report a unique case with a combination of 3pter-p25 monosomy and 1q42-qter trisomy, delineated by array comparative genomic hybridization analysis. The proband was a newborn male with mul...

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Bibliographic Details
Main Authors: Chumei Li, Vikas Mahajan, Jia-Chi Wang, Bosco Paes
Format: Article
Language:English
Published: Elsevier 2013-06-01
Series:Pediatrics and Neonatology
Subjects:
chromosome microarray
derivative chromosome
monosomy 3p25
multiple congenital anomalies
trisomy 1q42
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957213000107

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http://www.sciencedirect.com/science/article/pii/S1875957213000107

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