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|Title: ||Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3|
|Authors: ||陳持平;Chen, Chih-Ping;Tsang-Ming, K;Ko, Tsang-Ming;Chen, Chen-Yu;Chen, Chen-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Wu, Fang-Tzu;Wu, Fang-Tzu;Pan, Chen-Wen;Pan, Chen-Wen;Wang, Wayseen;Wang, Wayseen|
|Keywords: ||Chromosome 3;FISH;Prenatal diagnosis;Small supernumerary marker chromosome;aCGH.|
|Issue Date: ||2020-09-01 14:27:12 (UTC+8)|
|Abstract: ||Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 3.
Case report: A 36-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar/46,XX. The mother's karyotype was 47,XX,+mar/46,XX. The father's karyotype was 46.XY. Array comparative genomic hybridization (aCGH) analysis of uncultured amniocytes revealed a result of arr 3q11.1q12.1 (93,575,285-98,956,687) × 2-3 [GRCh37 (hg19)]. Prenatal ultrasound findings were unremarkable. The parents elected to continue the pregnancy, and a 2470-g female baby was delivered at 37 weeks of gestation without phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar/46,XX. aCGH analysis of cord blood revealed a result of arr 3q11.1q11.2 (93,649,973-97,137,764) × 2.4 [GRCh37 (hg19)] with a log2 ratio of 0.25 and a 30-40% mosaicism for 3.488-Mb dosage increase in 3q11.1-q11.2 encompassing four [Online Mendelian Inheritance in Man (OMIM)] genes of PROS1, ARL13B, NSUN3 and EPHA6. Metaphase fluorescence in situ hybridization (FISH) analysis confirmed 30% (6/20 cells) mosaicism for the sSMC(3) in the blood lymphocytes.
Conclusion: aCGH and FISH analyses are useful for perinatal investigation of a prenatally detected sSMC.
|Relation: ||TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY|
|Appears in Collections:||[醫學檢驗暨生物技術學系] 期刊論文|
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