Document Detail

Pure proximal deletion of chromosome 21 and kyphosis.
MedLine Citation:
PMID:  17890169     Owner:  NLM     Status:  MEDLINE    
We report on two unrelated patients with a proximal deletion of the long arm of chromosome 21. The deletion encompassed 14.5Mb of DNA. Molecular studies showed that the two telomeric breakpoints were within the same DNA clone (BAC RP11-56D12). The centromeric breakpoints, however, were separated by only 250kb of DNA (BAC RP11-645E14 and RP11-324B9). The phenotype observed in the two patients was very different, as patient 2, who had the largest deletion, had severe kyphosis not observed in patient 1. Previous studies have identified a 6Mb region of chromosome 21 associated with severe kyphosis. Interestingly, this region overlaps the 250kb segment deleted in patient 2. We suggest that one gene (NT011512.4) located in this small overlapping region might be responsible for severe kyphosis.
Boris Keren; Céline Bernardin; Annick Toutain; Delphine Heron; Bernard Fouquet; Béatrice Laudier; Louise Telvi; Serge Pierrick Romana; Michel Vekemans; Damien Sanlaville
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-08-15
Journal Detail:
Title:  European journal of medical genetics     Volume:  50     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2007 Nov-Dec
Date Detail:
Created Date:  2007-12-06     Completed Date:  2008-03-11     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  469-74     Citation Subset:  IM    
Service de cytogénétique, Hôpital Necker Enfants Malades, AP-HP, Paris, France.
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MeSH Terms
Chromosome Breakage
Chromosome Deletion*
Chromosomes, Human, Pair 21 / genetics*
Kyphosis / genetics*
Telomere / genetics

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