https://scholars.lib.ntu.edu.tw/handle/123456789/197810
標題: | Prenatal Diagnosis and Molecular Cytogenetic Characterization of De Novo Partial Trisomy 7p (7p15.3 -> Pter) and Partial Monosomy 13q (13q33.3 -> Qter) Associated with Dandy-Walker Malformation) Abnormal Skull Development and Microcephaly | 作者: | CHEN, CHIH-PING CHEN, MING SU, YI-NING TSAI, FUU-JEN CHERN, SCHU-RERN HSU, CHIN-YUAN WU, PEI-CHEN LEE, DONG-JAY MA, GWO-CHIN WANG, WAYSEEN |
關鍵字: | chromosome 7;chromosome 13;Dandy Walker malformation;monosomy 13q;microcephaly;trisomy 7p | 公開日期: | 2010 | 卷: | v.49 | 期: | n.3 | 起(迄)頁: | 320-326 | 來源出版物: | TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 摘要: | Objective To present the prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p ( 7p15 3 -> pter) and partial monosomy 13q (13q33 3 -> qter) associated with Dandy Walker malformation (DWM), abnormal skull development, microcephaly and multiple congenital anomalies Materials, Methods and Results A 42 year old woman , gravida 6, para 1, was referred for amniocentesis at 18 weeks of gestation because of her advanced maternal age Amniocentesis revealed an aberrant derivative chromosome 13, or der(13) The parental karyotypes were normal Spectral karyotyping showed that the der(13) was derived from a translocation of chromosomes 7 and 13 Fluorescence in situ hybridization using subtelomenc probes revealed three signals of 7pTEL and only one signal of 13qTEL, indicating a translocation between 7p and 13q in the der (13) Array based comparative genomic hybridization demonstrated partial trisomy 7p (7p15 3 p22 3) and partial monosomy 13q (13q33 3 q34) The karyotype was 46,XY,der(13)t(7,13)(p15 3,q33 3) Polymorphic DNA marker analysis revealed the paternal origin of the aberrant chromosome Level II ultrasound at 24 weeks of gestation revealed microcephaly, an irregular shaped skull, DWM, nuchal edema and transposition of the great arteries Conclusion Spectral karyotyping, fluorescence in situ hybridization and array based comparative genomic hybridization are useful for prenatal investigation of the nature of a de novo aberrant derivative chromosome Partial trisomy 7p (7p15 3 -> pter) and partial monosomy 13q (13q33 3 -> qter) can be associated with DWM, microcephaly, abnormal skull development , nuchal edema and cardiovascular defects on prenatal ultrasound |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/235639 |
顯示於: | 醫學系 |
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