PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
 
J Med Genet. Aug 1997; 34(8): 666–669.
PMCID: PMC1051029
Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.
D R FitzPatrick, L Strain, A E Thomas, D G Barr, A Todd, N M Smith, and W G Scobie
Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.
Abstract
We present a family with three affected males in two generations with congenital neurogenic chronic idiopathic intestinal pseudo-obstruction (CIIP), patent ductus arteriosus, and large platelet thrombocytopenia apparently segregating as an X linked recessive disorder. The pattern of segregation of DNA markers within the family is consistent with linkage to the previously described neurogenic CIIP (CIIPX) locus at Xq28. This combination may represent a new contiguous gene disorder and appears to have a good prognosis with supportive therapy.
Full text
Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1019K), or click on a page image below to browse page by page.
Images in this article
Click on the image to see a larger version.
Articles from Journal of Medical Genetics are provided here courtesy of
BMJ Group