Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array.

Huling JIANG; Zepeng PING; Luming WANG; Yuxia JIN; Suping LI; Xiaodan LIU; Zhengyou MIAO

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Prenatal diagnosis of a tetrasomy 18p case using BACs-on-Beads technology and single nucleotide polymorphism array.

VernacularTitle:应用BACs-on-BeadsTM和SNP-array技术产前诊断18p四体综合征一例
Author: Huling JIANG ¹ ; Zepeng PING ; Luming WANG ; Yuxia JIN ; Suping LI ; Xiaodan LIU ; Zhengyou MIAO
Author Information

1. Center of Prenatal Diagnosis, Jiaxing Maternity and Child Health Hospital, Jiaxing, Zhejiang 314000, China. Email: mzy2005@hotmail.com.
Publication Type:Case Reports
MeSH: Adult; Aneuploidy; Chromosomes, Artificial, Bacterial; genetics; Chromosomes, Human, Pair 18; genetics; Female; Humans; Karyotyping; Microarray Analysis; methods; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis; methods
From: Chinese Journal of Medical Genetics 2017;34(6):857-860
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism array (SNP-array) assays.
METHODSThe fetal sample was subjected to chromosomal karyotyping and BoBs analysis, and the results were validated with genome-wide scanning using a SNP microarray.
RESULTSThe fetus was found to have a 47,XX,+mar karyotype. BoBs analysis indicated that there was an amplification between 18p11.32 and 18p11.21, which was verified by the SNP-array assay as a 18.3 Mb duplication occurring at 18p11.32q11.1.
CONCLUSIONThe karyotype of the fetus was determined as 47,XX,+der18(18p11.32?18q11.1::18q11.1?18p11.32). The duplication has involved important genes including SMCHD1, LPIN2 and TGIF1, which may result in severe malformations in the fetus.