Document Detail


Cleft palate in a newborn with duplication 2(q13q23).
MedLine Citation:
PMID:  15352858     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: A preterm boy was born with multiple anomalies including cleft palate and ventricular septal defect. Chromosome analysis on a blood sample identified additional material within the long arm of chromosome 2. SETTING: The newborn was in the neonatal intensive care unit requiring tertiary care during his 22 days of life. RESULTS: A supplementary fluorescent in situ hybridization test was performed to confirm the extra chromosomal material was chromosome 2. Parents' chromosomes were normal, indicating a de novo duplication of 2q13q23. CONCLUSION: Comparison of this case with those in the literature suggests involvement of cleft palate of cases with duplication of 2q13.
Authors:
Sharon L Wenger; Ona C Bleigh; Marybeth Hummel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association     Volume:  41     ISSN:  1055-6656     ISO Abbreviation:  Cleft Palate Craniofac. J.     Publication Date:  2004 Sep 
Date Detail:
Created Date:  2004-09-08     Completed Date:  2004-11-22     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9102566     Medline TA:  Cleft Palate Craniofac J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  568-70     Citation Subset:  D; IM    
Affiliation:
Department of Pathology, West Virginia University, P.O. Box 9203, Morgantown, WV 26506-9203, USA. swenger@hsc.wvu.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Aneuploidy*
Chromosome Inversion
Chromosome Painting
Chromosomes, Human, Pair 2*
Cleft Palate / genetics*
Fatal Outcome
Gene Duplication
Humans
Infant, Newborn
Karyotyping
Male

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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