Document Detail

Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q.
MedLine Citation:
PMID:  10398269     Owner:  NLM     Status:  MEDLINE    
We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turleau et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II is 8q24.1. Although no genes involving limb development in the human have been identified in this region, two mouse syndromes are localized to the homologous chromosome region of 9A1-A4 which involve limb abnormalities. We propose that a gene involved in limb development is contiguous with the TRPS II gene which, when deleted, may cause tibial hemimelia.
C A Stevens; C A Moore
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  85     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1999 Aug 
Date Detail:
Created Date:  1999-10-20     Completed Date:  1999-10-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  409-12     Citation Subset:  IM    
Copyright Information:
Copyright 1999 Wiley-Liss, Inc.
Department of Pediatrics, T.C. Thompson Children's Hospital and Chattanooga Unit, University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA.
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MeSH Terms
Arm / pathology,  radiography
Chromosomes, Human, Pair 8*
Ectromelia / genetics*
Gene Deletion*
Langer-Giedion Syndrome / complications,  genetics*
Leg / pathology,  radiography
Tibia / abnormalities*
Ulna / abnormalities

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