Prenatal diagnosis of complex rearrangement of chromosome 21: The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization

被引：0

作者：

Namba, Akira ^{[1
]}

Nishiyama, Miyuki ^{[2
]}

Weiser, Joseph J. ^{[3
]}

Wyatt, Phillip ^{[3
]}

Kimura, Machiko ^{[1
]}

Niizawa, Rei ^{[1
]}

Miki, Akinori ^{[1
]}

Ishihara, Osamu ^{[1
]}

Itakura, Atsuo ^{[1
]}

Kamei, Yoshimasa ^{[1
]}

机构：

[1] Saitama Med Univ, Dept Obstet & Gynecol, 38 Moro Hongo, Iruma, Saitama, Japan

[2] LabCorp Japan, Chuo Ku, Tokyo, Japan

[3] Integrated Genet Inc, Santa Fe, NM USA

来源：

CLINICAL CASE REPORTS | 2013年 / 1卷 / 02期

关键词：

aCGH; chromosome; 21; Down syndrome; DSCR; interphase FISH; metaphase FISH;

D O I：

10.1002/ccr3.22

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Maternal serum screening-positive patient had prenatal diagnosis with amniotic fluid, which showed inconsistent results between interphase fluorescence in situ hybridization (three signals of 21q22.13-21q22.2) and G-banding analysis (46, XY). Further analyses proved that the fetus had extremely complex rearrangements of chromosome 21, including the interstitial duplication of Down syndrome critical region.

引用

页码：50 / 53

页数：4

共 50 条

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