Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome

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Title:	Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome
Authors:	陳持平;Chen, Chih-Ping;Tsang-Ming, K;Ko, Tsang-Ming;Chen, Yi-Yung;Su, Jun-Wei;Wang, Wayseen
Contributors:	生物科技學系
Keywords:	Amniocentesis;Cat eye syndrome;Mosaicism;Prenatal diagnosis;Small supernumerary marker chromosome 22;sSMC(22)
Date:	2013-09
Issue Date:	2013-10-29 09:36:11 (UTC+0)
Abstract:	We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). Copyright © 2013 Elsevier B.V. All rights reserved.
Relation:	GENE, 527(1):384-388.
Appears in Collections:	[生物科技學系] 期刊論文

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