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Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22

Journal Article · · American Journal of Medical Genetics
; ;  [1]
  1. Princess Anne Hospital, Southampton (United Kingdom); and others

Coffin-Lowry syndrome (CLS; MIM 303600) is an uncommon X-linked disorder causing mental retardation and skeletal abnormalities. Most recently it was mapped to a 5.6-centimorgan (cM) region of Xp22, flanked distally by AFM291wf5 and proximally by DXS1052. We present information which supports this localization and further narrows the region to approximately 3.4 cM. A recombination in a carrier from a British family means that DXS365 is the closest proximal flanking marker identified to date for the region thought to contain the CLS gene. This information reduces the region of interest by approximately 2.2 cM, a significant decrease in terms of the scale of effort which will be required to isolate and analyze candidate genes. 23 refs., 3 figs., 1 tab.

Sponsoring Organization:
USDOE
OSTI ID:
443769
Journal Information:
American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
Country of Publication:
United States
Language:
English