Prenatal diagnosis of sub-mieroscopie partial trisomy lOq using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype

摘要

Partial trisomy of the lOq region was originally reported in 1979 [1]. For 25 years, the diagnosis was made microscopically based on large, visible insertions in the region identified by karyotype analysis. Previous case reports have included both unbalanced translocations and large duplications/insertions in the lOq region [2]. Probands with partial trisomy lOq syndrome often have an abnormal phenotype that may include developmental delay [3-5], craniofacial abnormalities [3, 5], talipes (clubfoot) [2], microcephaly [2-4], or congenital heart disease [2-6]. Prenatal diagnoses by karyotype have been made following ultrasound diagnosis of sacrococcygeal teratoma [7], renal pyelectasis [3,8-10], and other fetal abnormalities [4]. In this case, we report the first prenatal diagnosis of partial trisomy lOq (10q22.3-10q23.2) with a normal karyotype and an abnormal chromosomal microarray analysis (CMA). This is the smallest copy number variant (CNV) (7.5 Mb) in the 10q22.3-10q23.2 regions yet reported.