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
Related Documents :
8250039 - Physical mapping by fish of the digeorge critical region (dgcr): involvement of the reg...
2663139 - Lineage-specific gene rearrangement/deletion: a nonconservative model.
18440989 - Epiblastic cited2 deficiency results in cardiac phenotypic heterogeneity and provides a...
6496569 - Interstitial deletion of chromosome 3p: report of a patient and delineation of a proxim...
6602649 - Adult t-cell leukemia. chromosome analysis of 15 cases.
16179229 - Interstitial 6q deletion: clinical and array cgh characterisation of a new patient.
6167409 - Insights on diplochromosome structure and behaviour.
6546899 - Relationship between the induction of chromosome damage and cytotoxicity for amsacrine ...
8016119 - Analysis of replication timing properties of human x-chromosomal loci by fluorescence i...
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Breakage
Chromosome Deletion*
Chromosomes, Human, Pair 21 / genetics*
Kyphosis / genetics*
Telomere / genetics

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

Previous Document:  Spontaneous unilateral autoinflation of a saline-filled mammary implant.
Next Document:  The regulation of body mass and its relation to the development of obesity