Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature.
Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: clinical report and review of the literature.
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45,X/47,XX, 18 嵌合体的临床、细胞遗传学和分子发现：临床报告和文献综述。
DOI：
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发表时间：
2002
期刊：
影响因子：
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通讯作者：
G. Schwanitz
中科院分区：
文献类型：
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作者：
R. Schubert;T. Eggermann;C. Hofstaetter;Barbara von Netzer;G. Knöpfle;G. Schwanitz
我们报告一例双嵌合体非整倍体患者的细胞遗传学和分子诊断结果。对一名17周大的胎儿进行了染色体分析，原因是孕妇年龄较大。检测到两种核型：45，X和47，XX，+18(50：50%)。用常规细胞遗传学和荧光原位杂交(FISH)方法对第二例羊水标本中未培养和培养的羊水细胞、胎儿淋巴细胞和跟腱未培养和培养的细胞系进行了鉴定。在所调查的不同组织中，核型为45，X的细胞比例为20-99%，核型为47，XX，+18的细胞比例为1-80%。由于严重的心脏畸形，妊娠在22+0周终止。病理检查显示胎儿具有典型的18三体和X单体表现，尤其是内脏器官。通过短串联重复分型确定了亲本和细胞的起源阶段，揭示了导致18三体的母体减数分裂错误，以及父系性染色体的体细胞丢失。到目前为止，只有另外两名患者报告了同样的马赛克现象。遗传咨询和预后仍然具有挑战性。
We report cytogenetic and molecular findings performed in a patient with double mosaic aneuploidy. Chromosome analysis of amniotic fluid cells from a 17-week-old fetus was performed because of advanced maternal age. Two karyotypes were detected: 45,X and 47,XX,+18 (50:50%). The same cell lines were determined in uncultured and cultured amniocytes of a second amniotic fluid sample, in fetal lymphocytes, and in uncultured and cultured cells of achilles tendon by conventional cytogenetics and fluorescence in situ hybridization (FISH). In the different investigated tissues, the percentage of cells with 45,X karyotype ranged from 20-99% and the percentage of cells with 47,XX,+18 ranged from 1-80%. The pregnancy was terminated at 22 + 0 weeks because of a severe cardiac malformation. Pathologic examination showed a fetus with aspects typical for manifestation of trisomy 18 and monosomy X, especially in the internal organs. The parent and cell stage of origin was determined by short tandem repeat typing and revealed a maternal meiotic division error that led to trisomy 18, as well as a somatic loss of a paternal sex chromosome. Only two other patients with the same mosaicism have been reported so far. Genetic counseling and prognosis remains challenging.
影响因子：
158.5
作者：
ANTONARAKIS, SE
通讯作者：
ANTONARAKIS, SE