A DOWN SYNDROME FEMALE INFANT WITH PARTIAL TRISOMY OF CHROMOSOME 21-ABNORMAL NUCHAL TRANSLUCENCY SCREENING TEST

被引：0
作者：
Strah, D.
Veble, A. [1 ]
Rudolf, G. [1 ]
Writzl, K. [1 ]
Gersak, K. [1 ]
机构：
[1] Univ Med Ctr Ljubljana, Dept Obstet & Gynaecol, Div Med Genet, SI-1000 Ljubljana, Slovenia
来源：
GENETIC COUNSELING | 2008年 / 19卷 / 04期
关键词：
Down syndrome; Pericentric inversion; Recombinant chromosome; Nuchal translucency thickness;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
A Down syndrome female infant with partial trisomy of chromosome 21 - abnormal nuchal translucency screening test: We describe a case of 24-year-old mother with abnormal nuchal translucency screening test. Standard G banding of chromosomes showed a normal prenatal karyotype. A Down syndrome female infant with partial duplication of the long arm of chromosome 21 was born resulted from a maternal pericentric inversion of region p11.1 to q22.1 of one of chromosome 21. As far as we know this case reports the first abnormal nuchal translucency screening test result due to partial trisomy of chromosome 21.
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收藏
页码：429 / 432
页数：4
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