Document Detail

Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.
MedLine Citation:
PMID:  25426167     Owner:  NLM     Status:  Publisher    
BACKGROUND: Few patients with interstitial deletions in the distal long arm of chromosome 14 have been reported, and these patients showed rather indistinct features, including growth and mental retardation and phenotypic alterations.
RESULTS: We describe a de novo 14q interstitial deletion in a 6-year-old boy with dysmorphic facial traits such as hypertelorism, short and narrow palpebral fissures, broad nose with anteverted nostrils, long philtrum, thin upper lip with cupid's bow, prominent and everted lower lip, mildly low-set ears, as well as moderate developmental delay and mild mental retardation. Array-CGH mapped the deletion to the region 14q24.3 to 14q31.3, including 13.11 Mb, proximal to the imprinted genomic region of 14q32.
CONCLUSION: This mild phenotypic presentation suggests that the deleted segment does not contain essential genes for early organ development. Twenty-two genes with known functions, including Neurexin III (NRXN3, OMIM 600567), map to the region deleted in the propositus.
Mariluce Riegel; Lilia Ma Moreira; Layla D Espirito Santo; Maria Betânia P Toralles; Albert Schinzel
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-11-19
Journal Detail:
Title:  Molecular cytogenetics     Volume:  7     ISSN:  1755-8166     ISO Abbreviation:  Mol Cytogenet     Publication Date:  2014  
Date Detail:
Created Date:  2014-11-26     Completed Date:  -     Revised Date:  2014-11-27    
Medline Journal Info:
Nlm Unique ID:  101317942     Medline TA:  Mol Cytogenet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  77     Citation Subset:  -    
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