Strah D, Veble A, Rudolf G, Writzl K, Gersak K
Obs/Gyn Outpatient Clinic, ZD Domzale, Slovenia.
Genet Couns. 2008;19(4):429-32.
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 p1.1 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.
我们描述了一例24岁母亲，其颈部半透明筛查试验结果异常。染色体标准G显带显示产前核型正常。一名患有21号染色体长臂部分重复的唐氏综合征女婴出生，其病因是母亲的一条21号染色体发生了p1.1至q22.1区域的臂间倒位。据我们所知，该病例报告了首例因21号染色体部分三体导致的异常颈部半透明筛查试验结果。
