A case of terminal deletion of chromosome 10p.

Cho, Jee Hae; Park, Ji Eun; Ko, Min Kyung; Kim, Eun Ju; Park, Ji Kwon; Lee, Soon Ae; Lee, Jong Hak; Paik, Won Young

doi:2011.54.7.386

Obstet Gynecol Sci > Volume 54(7); 2011 > Article

Case Report

Korean Journal of Obstetrics & Gynecology 2011;54(7):386-389.
DOI: https://doi.org/10.5468/KJOG.2011.54.7.386 Published online July 1, 2011.

A case of terminal deletion of chromosome 10p.

Jee Hae Cho, Ji Eun Park, Min Kyung Ko, Eun Ju Kim, Ji Kwon Park, Soon Ae Lee, Jong Hak Lee, Won Young Paik

¹Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, Jinju, Korea. wypaik@gnu.ac.kr
²Gyeongsang Institute of Health Sciences, Gyeongsang National University, Jinju, Korea.

Abstract

Chromosome 10p deletion (partial monosomy 10p) is rare chromosomal disorder. It was first reported in 1970. Since then, as far as we know, about 45 patients have been described. The main feature of this syndrome are craniofacial dysmorphism, congenital heart disease, vesicoureteral abnormalities, and developmental delay. We have experienced a prenatal case of Chromosome 10p terminal deletion by doing cytogenetic study due to high Down syndrome risk on quadruple test and cleft lip on prenatal ultrasonography. Conventional cytogenetic result from cord blood was 46,XY,del(10)(p13), molecular cytogenetic techniques using bacterial artificial chromosome array comparative genomic hybridization and fluorescence in situ hybridization analysis result was 46,XY,del(10)(p14)(NEBL-). To our knowledge, this karyotype may be the first report in Korea. We present this case with brief review of literature.

Key Words: 10p Deletion Syndrome (Partial), Molecular cytogenetic techniques, BAC array CGH, Fluorescence In situ hybridization, Prenatal ultrasonography