X-LINKED LATERALITY SEQUENCE IN A FAMILY WITH CARRIER MANIFESTATIONS

被引：31

作者：

MIKKILA, SP

JANAS, M

KARIKOSKI, R

TARKKILA, T

SIMOLA, KOJ

机构：

[1] TAMPERE UNIV HOSP, DEPT CLIN GENET, SF-33521 TAMPERE, FINLAND

[2] TAMPERE UNIV HOSP, DEPT PEDIAT, TAMPERE, FINLAND

[3] TAMPERE UNIV HOSP, DEPT OBSTET & GYNECOL, TAMPERE, FINLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 49卷 / 04期

关键词：

SITUS INVERSUS; CONGENITAL HEART DEFECTS; ASPLENIA; POLYSPLENIA; X-LINKED INHERITANCE; HETEROZYGOTE MANIFESTATIONS;

D O I：

10.1002/ajmg.1320490417

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

X-linked laterality sequence (XLLS) consists of situs inversus, complex cardiac defects, and alterations in the development of the spleen. We describe a family in which two male cousins had XLLS with caudal manifestations. In our family, the obligate carrier females had uterine septum and hypertelorism, which may be gene carrier manifestations. (C) 1994 Wiley-Liss, Inc.

引用

页码：435 / 438

页数：4

共 17 条

[11] POLYASPLENIA, CAUDAL DEFICIENCY, AND AGENESIS OF THE CORPUS-CALLOSUM [J].

RODRIGUEZ, JI ;

PALACIOS, J ;

OMENACA, F ;

LORENTE, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (01) :99-102

[12] FAMILIAL OCCURRENCE OF IVEMARK SYNDROME WITH SPLENIC HYPOPLASIA AND ASPLENIA IN SIBS [J].

SIMPSON, J ;

ZELLWEGER, H .

JOURNAL OF MEDICAL GENETICS, 1973, 10 (03) :303-304

[13]

SOLTAN HC, 1974, CLIN GENET, V5, P51

[14] X-LINKED MIDLINE DEFECTS [J].

TORIELLO, HV ;

HIGGINS, JV .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (01) :143-146

[15] AN APPARENTLY NEW SYNDROME OF MICROCEPHALIC PRIMORDIAL DWARFISM AND CATARACTS [J].

TORIELLO, HV ;

HORTON, WA ;

OOSTENDORP, A ;

WATERMAN, DF ;

HIGGINS, JV .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (01) :1-8

[16] REVERSAL OF LEFT-RIGHT ASYMMETRY - A SITUS-INVERSUS MUTATION [J].

YOKOYAMA, T ;

COPELAND, NG ;

JENKINS, NA ;

MONTGOMERY, CA ;

ELDER, FFB ;

OVERBEEK, PA .

SCIENCE, 1993, 260 (5108) :679-682

[17]

ZLOTOGORA J, 1987, American Journal of Medical Genetics, V26, P181, DOI 10.1002/ajmg.1320260126

← 1 2 →