X/Y translocation in a family with Leri-Weill dyschondrosteosis

被引：15

作者：

Calabrese, G

Fischetto, R

Stuppia, L

Capodiferro, F

Mingarelli, R

Causio, F

Rocchi, M

Rappold, GA

Palka, G

机构：

[1] Univ Chieti, Dipartimento Sci Biomed, Sez Genet Med, Pescara, Italy

[2] Osped Civile, Serv Genet Med, Pescara, Italy

[3] Azienda Osped Venere & Giovanni XXIII, Sez Genet Med, Bari, Italy

[4] CNR, Ist Citomorfol Umana Normale & Patol, Chieti, Italy

[5] CSS Mendel, Rome, Italy

[6] Univ Bari, Clin Ostetr & Ginecol, I-70121 Bari, Italy

[7] Univ Bari, Ist Genet, I-70121 Bari, Italy

[8] Univ Heidelberg, Inst Human Genet, D-6900 Heidelberg, Germany

来源：

HUMAN GENETICS | 1999年 / 105卷 / 04期

关键词：

D O I：

10.1007/s004390051116

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband.

引用

页码：367 / 368

页数：2

共 5 条

[1] SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) [J].