FAMILIAL OCCURRENCE OF HEREDITARY RENAL ADYSPLASIA WITH MULLERIAN ANOMALIES

被引：21

作者：

BATTIN, J

LACOMBE, D

LENG, JJ

机构：

[1] HOP ENFANTS PELLEGRIN,SERV PEDIAT & GENET MED,BORDEAUX,FRANCE

[2] CHU BORDEAUX,A MATERN PELLEGRIN,SERV GYNECOL OBSTET,BORDEAUX,FRANCE

来源：

CLINICAL GENETICS | 1993年 / 43卷 / 01期

关键词：

AUTOSOMAL DOMINANT INHERITANCE; HEREDITARY RENAL ADYSPLASIA; PENETRANCE; VONMAYER-ROKITANSKY-KUSTER ANOMALY;

D O I：

10.1111/j.1399-0004.1993.tb04420.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a family with unilateral or bilateral renal agenesis and Mullerian anomalies (vaginal atresia or minor anomalies). This family provides support for an autosomal dominant pattern of inheritance with incomplete penetrance and variable expressivity in hereditary renal adysplasia (HRA) associated with Mullerian defects.

引用

页码：23 / 24

页数：2

共 7 条

[1] FAMILIAL BILATERAL RENAL AGENESIS AND HEREDITARY RENAL ADYSPLASIA
BUCHTA, RM
VISESKUL, C
GILBERT, EF
SARTO, GE
OPITZ, JM
[J]. ZEITSCHRIFT FUR KINDERHEILKUNDE, 1973, 115 (02): : 111 - 129
[2] MURCS ASSOCIATION - MULLERIAN DUCT APLASIA, RENAL APLASIA, AND CERVICOTHORACIC SOMITE DYSPLASIA
DUNCAN, PA
SHAPIRO, LR
STANGEL, JJ
KLEIN, RM
ADDONIZIO, JC
[J]. JOURNAL OF PEDIATRICS, 1979, 95 (03) : 399 - 402
[3] FAMILIAL 5Q11.2-]Q13.3 SEGMENTAL DUPLICATION COSEGREGATING WITH MULTIPLE ANOMALIES, INCLUDING SCHIZOPHRENIA
MCGILLIVRAY, BC
BASSETT, AS
LANGLOIS, S
PANTZAR, T
WOOD, S
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (01): : 10 - 13
[4] MCKUSICK VA, 1990, MENDELIAN INHERITANC, P958
[5] VAGINAL ATRESIA (VON MAYER-ROKITANSKY-KUSTER OR MRK ANOMALY) IN HEREDITARY RENAL ADYSPLASIA (HRA)
OPITZ, JM
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 26 (04): : 873 - 876
[6] PAVANELLO RDM, 1988, AM J MED GENET, V29, P845
[7] SCHIMKE RN, 1980, CLIN GENET, V18, P417

← 1 →