INHERITED PARTIAL X-CHROMOSOME DUPLICATION IN A MENTALLY-RETARDED MALE

被引：32

作者：

NIELSEN, KB ^{[1
]}

LANGKJAER, F ^{[1
]}

机构：

[1] ANDERSVOENGE INST MENTALLY RETARDED,DK-4200 SLAGELSE,DENMARK

来源：

JOURNAL OF MEDICAL GENETICS | 1982年 / 19卷 / 03期

关键词：

D O I：

10.1136/jmg.19.3.222

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：222 / 224

页数：3

共 9 条

[1] FEMALE PHENOTYPE AND MULTIPLE ABNORMALITIES IN SIBS WITH A Y-CHROMOSOME AND PARTIAL X-CHROMOSOME DUPLICATION - H-Y-ANTIGEN AND XG BLOOD-GROUP FINDINGS [J].

BERNSTEIN, R ;

JENKINS, T ;

DAWSON, B ;

WAGNER, J ;

DEWALD, G ;

KOO, GC ;

WACHTEL, SS .

JOURNAL OF MEDICAL GENETICS, 1980, 17 (04) :291-300

[2] PRESUMPTIVE EVIDENCE OF 2 ACTIVE X CHROMOSOMES IN SOMATIC-CELLS OF A HUMAN FEMALE [J].

BUHLER, EM ;

JURIK, LP ;

VOYAME, M ;

BUHLER, UK .

NATURE, 1977, 265 (5590) :142-144

[3] STRUCTURAL-ABERRATIONS OF X-CHROMOSOME IN MAN [J].

DAVIDENKOVA, EF ;

VERLINSKAJA, DK ;

MASHKOVA, MV .

HUMAN GENETICS, 1978, 41 (03) :269-279

[4] REPLICATION PATTERN OF X CHROMOSOMES IN 3 X-AUTOSOMAL TRANSLOCATIONS [J].

HAGEMEIJER, A ;

HOOVERS, J ;

SMIT, EME ;

BOOTSMA, D .

CYTOGENETICS AND CELL GENETICS, 1977, 18 (06) :333-348

[5] 4 NEW CASES OF X-AUTOSOME TRANSLOCATION IN MAN [J].

LAURENT, C ;

BIEMONT, MC ;

DUTRILLAUX, B .

HUMANGENETIK, 1975, 26 (01) :35-46

[6] A DUPLICATION-DEFICIENCY X-CHROMOSOME IN A GIRL WITH SEVERE MENTAL-RETARDATION [J].

SACCHI, N ;

DALPRA, L ;

KEHYAYAN, E .

HUMAN GENETICS, 1980, 54 (02) :279-281

[7] TANDEM DUPLICATION DUP(X)(Q13Q22) IN A MALE PROBAND INHERITED FROM THE MOTHER SHOWING MOSAICISM OF X-INACTIVATION [J].

STEINBACH, P ;

HORSTMANN, W ;

SCHOLZ, W .

HUMAN GENETICS, 1980, 54 (03) :309-313

[8]

THERMAN E, 1974, HUMANGENETIK, V25, P1

[9] A GENE CONTROLLING H-Y-ANTIGEN ON THE X-CHROMOSOME - TENTATIVE ASSIGNMENT BY DELETION MAPPING TO XP223 [J].

WOLF, U ;

FRACCARO, M ;

MAYEROVA, A ;

HECHT, T ;

MARASCHIO, P ;

HAMEISTER, H .

HUMAN GENETICS, 1980, 54 (02) :149-154

← 1 →