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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共 5 条
  • [1] SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
    Belin, V
    Cusin, V
    Viot, G
    Girlich, D
    Toutain, A
    Moncla, A
    Vekemans, M
    Le Merrer, M
    Munnich, A
    Cormier-Daire, V
    [J]. NATURE GENETICS, 1998, 19 (01) : 67 - 69
  • [2] Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?
    Guichet, A
    Briault, S
    LeMerrer, M
    Moraine, C
    [J]. CLINICAL DYSMORPHOLOGY, 1997, 6 (04) : 341 - 345
  • [3] A study of females with deletions of the short arm of the X chromosome
    James, RS
    Coppin, B
    Dalton, P
    Dennis, NR
    Mitchell, C
    Sharp, AJ
    Skuse, DH
    Thomas, NS
    Jacobs, PA
    [J]. HUMAN GENETICS, 1998, 102 (05) : 507 - 516
  • [4] Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    Rao, E
    Weiss, B
    Fukami, M
    Rump, A
    Niesler, B
    Mertz, A
    Muroya, K
    Binder, G
    Kirsch, S
    Winkelmann, M
    Nordsiek, G
    Heinrich, U
    Breuning, MH
    Ranke, MB
    Rosenthal, A
    Ogata, T
    Rappold, GA
    [J]. NATURE GENETICS, 1997, 16 (01) : 54 - 63
  • [5] Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
    Shears, DJ
    Vassal, HJ
    Goodman, FR
    Palmer, RW
    Reardon, W
    Superti-Furga, A
    Scambler, PJ
    Winter, RM
    [J]. NATURE GENETICS, 1998, 19 (01) : 70 - 73
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