Document Detail

12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
MedLine Citation:
PMID:  18452363     Owner:  NLM     Status:  MEDLINE    
The authors report the case of a Japanese girl with interstitial deletion of chromosome 12q15-q21.2 who had multiple congenital anomalies including bilateral cleft lip and palate (BCLP) with intrauterine onset of growth retardation and severe psychomotor developmental delay. Only two other patients with a similar deletion have been reported previously. However, these two patients showed such different clinical features that defining the karyotype-phenotype correlation has remained unfeasible. The additional case presented here reveals that two of the three cases with an overlapping deletion in 12q show the phenotype of BCLP, suggesting the correlation between this area of gene deletion and cleft lip and palate.
Tadashi Yamanishi; Juntaro Nishio; Shigenori Miya; Nobuhiko Okamoto; Akihito Takahashi; Yasuhisa Toribe; Takao Mukai; Chie Kobayashi
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association     Volume:  45     ISSN:  1055-6656     ISO Abbreviation:  Cleft Palate Craniofac. J.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-05-02     Completed Date:  2008-08-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102566     Medline TA:  Cleft Palate Craniofac J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  325-8     Citation Subset:  D; IM    
Department of Oral and Maxillofacial Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 12*
Cleft Lip / genetics*
Cleft Palate / genetics*
Infant, Newborn

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