PARTIAL TRISOMY-13 AS A RESULT OF DENOVO (6P - 13Q) TRANSLOCATION

被引：10

作者：

JONES, LA

TAYSI, K

STRAUSS, AW

HARTMANN, AF

机构：

[1] WASHINGTON UNIV,SCH MED,ST LOUIS CHILDRENS HOSP,EDWARD MALLINCKRODT DEPT PEDIAT,ST LOUIS,MO 63110

[2] WASHINGTON UNIV,SCH MED,ST LOUIS CHILDRENS HOSP,DIV CARDIOL,ST LOUIS,MO 63110

来源：

HUMAN GENETICS | 1979年 / 48卷 / 02期

关键词：

D O I：

10.1007/BF00286911

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal. © 1979 Springer-Verlag.

引用

页码：245 / 249

页数：5

共 6 条

[1] ANALYSIS OF BREAK POINTS OF STRUCTURAL REARRANGEMENTS IN MAN [J].

JACOBS, PA ;

BUCKTON, KE ;

CUNNINGHAM, C ;

NEWTON, M .

JOURNAL OF MEDICAL GENETICS, 1974, 11 (01) :50-64

[2]

NIEBUHR E, 1977, NEW CHROMOSOMAL SYND, P273

[3] INCIDENCE OF CHROMOSOME-ABERRATIONS AMONG 11148 NEWBORN CHILDREN [J].

NIELSEN, J ;

SILLESEN, I .

HUMANGENETIK, 1975, 30 (01) :1-12

[4]

NOEL B, 1976, CLIN GENET, V9, P593

[5]

ROWE RD, 1978, HEART DISEASE INFANC, P908

[6] CHROMOSOMAL VARIABILITY IN D1-TRISOMY SYNDROME - 3 CASES AND REVIEW OF LITERATURE [J].

TAYLOR, MB ;

JUBERG, RC ;

JONES, B ;

JOHNSON, WA .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1970, 120 (04) :374-&

← 1 →