NORMAL PHENOTYPE AND PARTIAL TRISOMY FOR THE G-POSITIVE REGION OF CHROMOSOME-21

被引：26

作者：

DANIEL, A ^{[1
]}

机构：

[1] PRINCE WALES HOSP,CYTOGENET & CELL BIOL UNIT,SYDNEY,AUSTRALIA

来源：

JOURNAL OF MEDICAL GENETICS | 1979年 / 16卷 / 03期

关键词：

D O I：

10.1136/jmg.16.3.227

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.

引用

页码：227 / 229

页数：3

共 8 条

[1]

AULA P, 1973, CLIN GENET, V4, P241

[2]

CERVENKA J, 1977, CLIN GENET, V11, P119

[3] STRUCTURE AND INHERITANCE OF SOME HETEROZYGOUS ROBERTSONIAN TRANSLOCATIONS IN MAN [J].

DANIEL, A ;

LAMPOTANG, PRLC .

JOURNAL OF MEDICAL GENETICS, 1976, 13 (05) :381-388

[4] PARTIAL TRISOMY-21 - FURTHER EVIDENCE THAT TRISOMY OF BAND 21Q22 IS ESSENTIAL FOR DOWNS PHENOTYPE [J].

HAGEMEIJER, A ;

SMIT, EME .

HUMAN GENETICS, 1977, 38 (01) :15-23

[5] DOWNS-SYNDROME - POSSIBILITY OF A PATHOGENETIC SEGMENT ON CHROMOSOME NO 21 [J].

NIEBUHR, E .

HUMANGENETIK, 1974, 21 (01) :99-101

[6]

SOUDEK D, 1966, LANCET, V2, P336

[7] A CHROMOSOMAL ABNORMALITY IN A GIRL WITH SOME FEATURES OF DOWNS SYNDROME (MONGOLISM) [J].

WARKANY, J ;

SOUKUP, SW .

JOURNAL OF PEDIATRICS, 1963, 62 (06) :890-+

[8]

WILLIAMS JD, 1975, AM J HUM GENET, V27, P478

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