Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype

中國醫藥大學機構典藏 China Medical University Repository, Taiwan > 醫學院 > 基礎醫學研究所 > 期刊論文 > Item 310903500/3335

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题名:	Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype
作者:	林齊強(Chyi-Chyang Lin);謝耀元;(Chung-Hsing Wang);(Yueh-Chun Li);謝麗嬌(Lie-Jiau Hsieh);李正淳(Cheng-Chun Lee);蔡長海(Chang-Hai Tsai);蔡輔仁(Fuu-Jen Tsai)*
贡献者:	醫學院基礎醫學研究所;中國附醫醫學研究部染色體實驗室
关键词:	marker chromosome 22;small supernumerary marker chromosome (sSMC);SKY;CES critical region;VCFS/DGS critical region
日期:	2006-10
上传时间:	2009-08-20 18:33:36 (UTC+8)
摘要:	Objective To present prenatal findings and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype. Case and Methods An amniocentesis was performed at 15 weeks' gestation and a small marker chromosome in the female fetus of a twin pregnancy was noted. A second amniocentesis was performed at 18 weeks; G-banding analysis on amniotic cells confirmed the small marker chromosome found in the female fetus. Both parents and the male twin fetus had normal karyotypes. Spectral karyotyping (SKY), Fluorescence in situ hybridization (FISH) analyses with chromosomal specific whole chromosome painting probe (WCP 22) and alphoid satellite DNA probe (D22Z4) were used to identify the origin of the sSMC. The make-up of the sSMC was characterized by further FISH studies with chromosome region specific probes. The twin babies were delivered normally at 35 weeks' gestation. The female neonate with sSMC did not show any dysmorphic features, except for a type II atrial septum defect (ASD) at birth. She was found to be developing and growing normally at her 2-year follow-up. Results Conventional G-banding study confirmed the presence of a sSMC with bi-satellites. SKY and FISH with D22Z4 probes showed that the marker originated from chromosome 22. FISH studies using 4 locus-specific DNA probes in the 22q11.2 region (N25 probe to detect the D22S75 locus within the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) critical region, a clone to detect the Bid locus just distal to the cat eye syndrome (CES) critical region and two clones 77H2 and 109L3 to detect the proximal end of the CES critical region, (CECR2 and CECR7), did not reveal any hybridization signal with the marker chromosome. The karyotype of the fetus was 47,XX,+ mar. ish der(22) (SKY+,D22Z42 + ,CECR7-,CECR2-, BID-,D22S75-). Conclusion The supernumerary marker chromosome in this case was a de novo inv dup(22)(q11.2) and contained a duplicated proximal long arm region < 400 kb from the centromere; it did not appear to affect the phenotype of the child.
關聯:	PRENATAL DIAGNOSIS26(10):898~902
显示于类别:	[基礎醫學研究所] 期刊論文

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