NEUROGENIC CHRONIC IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, PATENT DUCTUS-ARTERIOSUS, AND THROMBOCYTOPENIA SEGREGATING AS AN X-LINKED RECESSIVE DISORDER

Authors
FITZPATRICK DR STRAIN L THOMAS AE BARR DGD TODD A SMITH NM SCOBIE WG
Citation
Dr. Fitzpatrick et al., NEUROGENIC CHRONIC IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, PATENT DUCTUS-ARTERIOSUS, AND THROMBOCYTOPENIA SEGREGATING AS AN X-LINKED RECESSIVE DISORDER, Journal of Medical Genetics, 34(8), 1997, pp. 666-669
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
34
Issue
8
Year of publication
1997
Pages
666 - 669
Database
ISI
SICI code
0022-2593(1997)34:8<666:NCIIPP>2.0.ZU;2-9
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 li nkage to the previously described neurogenic CIIP (CIIPX) locus at Xq2 8. This combination may represent a new contiguous gene disorder and a ppears to have a good prognosis with supportive therapy.