4P TRISOMY SYNDROME - REPORT OF 4 ADDITIONAL CASES AND SEGREGATION ANALYSIS OF 21 FAMILIES WITH DIFFERENT TRANSLOCATIONS

被引：12

作者：

CRANE, J ^{[1
]}

SUJANSKY, E ^{[1
]}

SMITH, A ^{[1
]}

机构：

[1] UNIV COLORADO,DEPT BIOPHYS & GENET,DENVER,CO 80262

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 4卷 / 03期

关键词：

D O I：

10.1002/ajmg.1320040304

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Thirty reports of partial 4p trisomy have been published. The manifestations and cytogenetic findings in 4 additional cases from 2 families are described in the present paper. Segregation analysis has been performed on the 21 families reported to date. The risk of having unbalanced offspring was the same in carrier mothers and carrier fathers. The risk of trisomic offspring was 14%. Among phenotypically normal progeny, normal karyotypes and balanced translocation states occurred with about equal frequency.

引用

页码：219 / 229

页数：11

共 29 条

[1]

ANDRE MJ, 1976, ANN GENET-PARIS, V19, P127

[2]

ANDRLE M, 1976, HUM GENET, V33, P155

[3]

BAUKNECHT T, 1976, HUM GENET, V31, P227

[4]

CRISALLI M, 1975, J GENET HUM, V23, P187

[5] CENTRIC FISSION OF CHROMOSOME NO-4 IN MOTHER OF 2 PATIENTS WITH TRISOMY 4P [J].

DALLAPICCOLA, B ;

MASTROIACOVO, P ;

GANDMI, E .

HUMAN GENETICS, 1976, 31 (01) :121-125

[6]

DALLAPICCOLA B, 1974, ANN GENET-PARIS, V17, P115

[7] FAMILY WITH AN INHERITED TRANSLOCATION INVOLVING NO-4-NO-21 CHROMOSOMES [J].

DARMADY, JM ;

SEABRIGHT, M .

JOURNAL OF MEDICAL GENETICS, 1975, 12 (04) :408-411

[8]

FURBETTA M, 1975, HUMANGENETIK, V26, P87

[9]

GIOVANNELLI G, 1974, ANN GENET-PARIS, V17, P119

[10] TRISOMY 4P - 3 NEW OBSERVATIONS [J].

GIRAUD, F ;

MATTEI, JF ;

MATTEI, MG ;

AYME, S ;

BERNARD, R .

HUMANGENETIK, 1975, 30 (02) :99-108

← 1 2 3 →