Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder

被引：19

作者：

FitzPatrick, DR

Strain, L

Thomas, AE

Barr, DGD

Todd, A

Smith, NM

Scobie, WG

机构：

[1] WESTERN GEN HOSP,MOL MED CTR,DEPT HUMAN GENET,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND

[2] ROYAL HOSP SICK CHILDREN,DEPT PAEDIAT HAEMATOL,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND

[3] ROYAL HOSP SICK CHILDREN,DEPT MED,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND

[4] ROYAL INFIRM,SCOTTISH BLOOD TRANSFUS SERV,EDINBURGH,MIDLOTHIAN,SCOTLAND

[5] ROYAL HOSP SICK CHILDREN,DEPT PATHOL,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND

[6] ROYAL HOSP SICK CHILDREN,DEPT SURG,EDINBURGH EH9 1LF,MIDLOTHIAN,SCOTLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 08期

关键词：

X chromosome; pseudo-obstruction; patent ductus arteriosus; thrombocytopenia;

D O I：

10.1136/jmg.34.8.666

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：666 / 669

页数：4

共 7 条

[1]

Auricchio A, 1996, AM J HUM GENET, V58, P743

[2] Infantile chronic idiopathic intestinal pseudoobstruction: The role of small intestinal manometry as a diagnostic tool and prognostic indicator [J].