Molecular cytogenetic characterization of Xp22.32 -> pter deletion and Xq26.3 -> qter duplication in a male fetus associated with 46,Y,rec(X) dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

Chen Chih-Ping; Chen Chen-Yu; Chern Schu-Rern; Wu Peih-Shan; Chen Yen-Ni; Chen Shin-Wen; Lee Chen-Chi; Town Dai-Dyi; Lee Meng-Shan; Yang Chien-Wen; Wang Wayseen

首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Molecular cytogenetic characterization of Xp22.32 -> pter deletion and Xq26.3 -> qter duplication in a male fetus associated with 46,Y,rec(X) dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

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Molecular cytogenetic characterization of Xp22.32 -> pter deletion and Xq26.3 -> qter duplication in a male fetus associated with 46,Y,rec(X) dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

机译：与46，Y，rec（X）dup（Xq）inv（X）（p22.3q26.3）相关的雄性胎儿Xp22.32-> pter缺失和Xq26.3-> qter复制的分子细胞遗传学表征左心发育不全，身材矮小和母亲X染色体周围性倒置

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Objective: We present molecular cytogenetic characterization of an Xp22.32 -> pter deletion and an Xq26.3-4 -> qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion.

机译：目的：我们介绍了先天性畸形和母体X染色体周围性反转的男性胎儿中Xp22.32-> pter缺失和Xq26.3-4-> qter重复的分子细胞遗传学特征。

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《Taiwanese journal of obstetrics and gynecology》 |2016年第5期|共7页
作者
Chen Chih-Ping; Chen Chen-Yu; Chern Schu-Rern; Wu Peih-Shan; Chen Yen-Ni; Chen Shin-Wen; Lee Chen-Chi; Town Dai-Dyi; Lee Meng-Shan; Yang Chien-Wen; Wang Wayseen;
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正文语种 eng
中图分类妇产科学;
关键词
hypotrophic heart; short stature; Xp22.32 -gt; pter deletion; Xq26.3 -gt; qter duplication; Yp11.31 -gt; pter deletion;

机译：营养不良的心脏;身材矮小;Xp22.32- pter缺失;Xq26.3- qter重复;Yp11.31- pter缺失;
入库时间 2022-08-18 17:32:23

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1. Molecular cytogenetic characterization of Xp22.32 -> pter deletion and Xq26.3 -> qter duplication in a male fetus associated with 46,Y,rec(X) dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion [J] . Chen Chih-Ping, Chen Chen-Yu, Chern Schu-Rern, Taiwanese journal of obstetrics and gynecology . 2016,第5期

机译：与46，Y，rec（X）dup（Xq）inv（X）（p22.3q26.3）相关的雄性胎儿Xp22.32-> pter缺失和Xq26.3-> qter复制的分子细胞遗传学表征左心发育不全，身材矮小和母亲X染色体周围性倒置
2. Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion. [J] . Maurin ML, Labrune P, Brisset S, American journal of medical genetics, Part A . 2009,第2期

机译：4p15.1-pter重复和4q35.1-qter缺失的重组4号染色体周向倒置的分子细胞遗传学表征。
3. Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion [J] . Chen Chih-Ping, Ko Tsang-Ming, Su Yi-Ning, Taiwanese journal of obstetrics and gynecology . 2016,第5期

机译：与父亲外周中心性反转相关的胎儿中rec（10）dup（10p）inv（10）（p11.2q26.3）的产前诊断和分子细胞遗传学特征
4. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). [O] . P W Allderdice, N Browne, D P Murphy 1975

机译：染色体3重复q21导致qter缺失p25导致周向性倒置inv（3）（p25q21）携带者的儿童患有pter综合征。
5. Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion [O] . Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, 2016

机译：分子细胞遗传学表征Xp22.32→pter缺失和Xq26.3→qter重复在男性胎儿相关的46，Y，rec（X）dup（Xq）inv（X）（p22.3q26.3），左侧发育不全心脏，身材矮小，母体X染色体周围反转

Molecular cytogenetic characterization of Xp22.32 -> pter deletion and Xq26.3 -> qter duplication in a male fetus associated with 46,Y,rec(X) dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

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