Balkan Journal of Medical Genetics

CONGENITAL HYDROCEPHALUS AND HEMIVERTEBRAE ASSOCIATED WITH DE NOVO PARTIAL MONOSOMY 6q (6q25.3→qter)
Li Y, Choy K-W, Xie H-N, Chen M, He W-Y, Gong Y-F, Liu H-Y, Song Y-Q, Xian Y-X, Sun X-F, Chen X-J,
*Corresponding Author: Xin-Jie Chen, Ph.D., Key Laboratory of Reproductive Medicine of Guangdong Province, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, Duobao Road 63, Guangzhou, 510150, Guangdong, People’s Republic of China. Tel: +86-20-81292292. Fax: +86-20-81292013. E-mail: lucychen23@aliyun.com
page: 77

RESULTS

The aCGH revealed a deletion in chromosome region 6q25.3→qter with a size of 10.04 Mb (the first and last affected probe at positions 160,857,810 and 170,893,070) in the fetus (Figure 2). The deleted 6q25.3→qter region contains 97 genes, including 28 OMIM genes. The karyotype of the cultured amniocytes was 46,XX,del(6)(q25) (Figure 3). Metaphase FISH analysis on cultured amniocytes revealed an absence of a signal for the 6q subtelomeric probe (Figure 4). The G-banding chromosome analysis and FISH confirmed the results of aCGH. There were no abnormal findings by aCGH, karyotyping or FISH testing in the healthy parents, and thus, the aberration was confirmed to be de novo.

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