Document Detail


Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death.
MedLine Citation:
PMID:  23597526     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Albeit rare, 3pter-p25 monosomy or 1q42-qter trisomy syndromes have been documented in the literature. Here we report on 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 multiple congenital anomalies that included brain malformation, ocular anomalies, trachea-laryngomalacia, cardiac defects, intestinal malrotation, and cutaneous findings in conjunction with biochemical anomalies, profound growth and developmental restriction, and early death. To our knowledge, this is the first case report with this unique chromosomal imbalance.
Authors:
Chumei Li; Vikas Mahajan; Jia-Chi Wang; Bosco Paes
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-3-5
Journal Detail:
Title:  Pediatrics and neonatology     Volume:  -     ISSN:  1875-9572     ISO Abbreviation:  Pediatr Neonatol     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-4-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101484755     Medline TA:  Pediatr Neonatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013. Published by Elsevier B.V.
Affiliation:
Division of Clinical Genetics, McMaster University, Hamilton, Canada. Electronic address: lichum@mcmaster.ca.
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