THE VARIOUS PHENOTYPES IN XP DELETION - OBSERVATIONS IN 11 PATIENTS

被引：25

作者：

FRYNS, JP ^{[1
]}

PETIT, P ^{[1
]}

VANDENBERGHE, H ^{[1
]}

机构：

[1] INST BIOL MED,DEPT CYTOGENET,B-1180 BRUSSELS,BELGIUM

来源：

HUMAN GENETICS | 1981年 / 57卷 / 04期

关键词：

D O I：

10.1007/BF00281690

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：385 / 387

页数：3

共 8 条

[1]

FERGUSON-SMITH M A, 1965, J Med Genet, V2, P142, DOI 10.1136/jmg.2.2.142

[2] WOMEN HETEROZYGOUS FOR DEFICIENCY OF (P21-]PTER) REGION OF X-CHROMOSOME ARE FERTILE [J].

FRACCARO, M ;

MARASCHIO, P ;

PASQUALI, F ;

SCAPPATICCI, S .

HUMAN GENETICS, 1977, 39 (03) :283-292

[3] CLINICAL CONSEQUENCE OF XP- [J].

HOO, JJ .

HUMAN GENETICS, 1979, 46 (03) :349-351

[4] SHORT ARM DELETION OF AN X-CHROMOSOME, 46,XXP- [J].

KAISER, P ;

ZABEL, B ;

HANSEN, S ;

DAUME, E .

HUMAN GENETICS, 1976, 32 (01) :89-100

[5] PARTIAL SHORT ARM DELETIONS OF THE X-CHROMOSOME AND SPONTANEOUS PUBERTAL DEVELOPMENT IN GIRLS WITH SHORT STATURE [J].

KALOUSEK, D ;

SCHIFFRIN, A ;

BERGUER, AM ;

SPIER, P ;

GUYDA, H ;

COLLE, E .

JOURNAL OF PEDIATRICS, 1979, 94 (06) :891-894

[6]

SIMPSON JL, 1979, GENETIC MECHANISMS S, P365

[7] X-CHROMOSOME CONSTITUTION AND THE HUMAN FEMALE PHENOTYPE [J].

THERMAN, E ;

DENNISTON, C ;

SARTO, GE ;

ULBER, M .

HUMAN GENETICS, 1980, 54 (02) :133-143

[8]

VANDENBERGHE H, 1974, 6 TAG SEKT CYT GES A, V6, P12

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