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
收藏
页码：367 / 368
页数：2
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