THE FETAL PHENOTYPE OF PARTIAL 2Q TRISOMY

被引：2

作者：

SIFFROI, JP ^{[1
]}

GOMES, DM ^{[1
]}

ROUME, J ^{[1
]}

机构：

[1] HOP ST ANTOINE,HISTOL EMBRYOL CYTOGENET LAB,PARIS,FRANCE

来源：

PRENATAL DIAGNOSIS | 1995年 / 15卷 / 04期

关键词：

CHROMOSOME; 2; PARTIAL TRISOMY 2Q;

D O I：

10.1002/pd.1970150415

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 22-week-old fetus with partial trisomy 2q (q24.1-->qter) and 7q35 monosomy is described. To our knowledge, this represents the greatest unbalanced 2q chromosomal segment published in the literature. The clinical phenotype is in agreement with previous descriptions in children and allows us to propose a fetal phenotype for this chromosomal abnormality.

引用

页码：382 / 384

页数：3

共 6 条

[1]

DAHOUNHADORN S, 1992, ANN GENET-PARIS, V35, P55

[2]

de Grouchy J, 1982, ATLAS MALADIES CHROM

[3]

MARCHESE S, 1984, American Journal of Human Genetics, V36, p103S

[4] 5 CHILDREN WITH DEL-(2)(Q31Q33) AND ONE INDIVIDUAL WITH DUP-(2)(Q31Q33) FROM A SINGLE FAMILY - REVIEW OF BRAIN, CARDIAC, AND LIMB MALFORMATIONS [J].

RAMER, JC ;

MOWREY, PN ;

ROBINS, DB ;

LIGATO, S ;

TOWFIGHI, J ;

LADDA, RL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (03) :392-400

[5] PARTIAL TRISOMY FOR 2Q IN A PATIENT WITH DIR DUP(2)(Q33.1Q35) [J].

ROMAIN, DR ;

MACKENZIE, NG ;

MOSS, D ;

COLUMBANOGREEN, LM ;

SMYTHE, RH ;

PARFITT, RG ;

DIXON, JW .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (08) :652-653

[6]

SIFFROI JP, 1984, ANN GENET-PARIS, V27, P241

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