X-linked thrombocytopenia in a girl

被引：20
作者：
Inoue, H
Kurosawa, H [1 ]
Nonoyama, S
Imai, K
Kumazaki, H
Matsunaga, T
Sato, Y
Sugita, K
Eguchi, M
机构：
[1] Dokkyo Univ, Sch Med, Dept Paediat, Div Haematol, Mibu, Tochigi 32102, Japan
[2] Tokyo Med & Dent Univ, Dept Paediat, Tokyo, Japan
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 2002年 / 118卷 / 04期
关键词：
X-linked thrombocytopenia; Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome protein; X-chromosome inactivation; human androgen receptor gene;
D O I：
10.1046/j.1365-2141.2002.03740.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We report X- linked thrombocytopenia (XLT) in a 6- year- old girl with petechiae and thrombocytopenia from the age of 3 months. Her 2- year- old brother was also diagnosed with XLT. The Wiskott- Aldrich syndrome protein (WASP) gene was detected as a replacement of +5th G to A on intron 6 using sequence analysis, and the WASP expression levels in this patient were one- third those of a healthy control. The X- inactivation analysis of the patients lymphocytes showed a random pattern of X- chromosome inactivation. To our knowledge, this is the first confirmed report of XLT in a female.
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页码：1163 / 1165
页数：3
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