CHROMOSOMAL LOCALIZATION OF A PSEUDOAUTOSOMAL GROWTH GENE(S)

被引：36

作者：

OGATA, T

PETIT, C

RAPPOLD, G

MATSUO, N

MATSUMOTO, T

GOODFELLOW, P

机构：

[1] INST PASTEUR, CNRS, UNITE GENET MOLEC HUMAINE 1445, F-75724 PARIS 15, FRANCE

[2] UNIV HEIDELBERG, INST HUMANGENET, W-6900 HEIDELBERG, GERMANY

[3] KEIO UNIV, SCH MED, DEPT PAEDIAT, TOKYO 108, JAPAN

[4] HIROSHIMA UNIV, SCH MED, DEPT PAEDIAT, HIROSHIMA 730, JAPAN

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 09期

关键词：

D O I：

10.1136/jmg.29.9.624

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Although recent molecular studies in patients with sex chromosome aberrations are consistent with a growth gene(s) being present in the pseudoautosomal region (PAR), the precise location has not been determined. In this report, we describe a Japanese boy and his mother with an interstitial deletion in Xp22.3 and review the correlation between genotype and stature in six cases of partial monosomy of the PAR. The results indicate that the region from DXYS20 to DXYS15 is the critical region for the putative growth gene(s).

引用

页码：624 / 628

页数：5

共 38 条

[1]

[Anonymous], 1989, MOL CLONING

[2] CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME [J].