源自16号染色体的新发额外标记染色体的产前诊断。
Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16.
作者信息
Yakut S, Cetin Z, Simşek M, Karaüzüm S B, Tükün A, Lüleci G
机构信息
Department of Medical Biology and Genetics, School of Medicine, Akdeniz University, Antalya, Turkey.
出版信息
Genet Couns. 2009;20(4):327-32.
Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16: A 37 year old pregnant woman was referred for amniocentesis at 18 weeks of gestation due to advanced maternal age and abnormal serum biochemistry. A nonsatellited, monocentric marker chromosome was observed with a frequency of 57% in cultured amniocytes. Parental karyotypes were normal. The marker chromosome was found to be derived from chromosome 16 by FISH using CEP16 and WCP16 probes. Marker chromosomes were not painted with M-FISH probe mixture, indicating an exclusively heterochromatin nature. CGH analysis using genomic DNA isolated from uncultured amniocytes also supported the M-FISH results. Genetic counseling was given to parents and the family decided to continue the pregnancy to term. The baby was born at 36 weeks of gestation without any dysmorphic features. Follow-up at 7 months of age revealed no developmental abnormalities.
源自16号染色体的新发额外标记染色体的产前诊断：一名37岁孕妇因高龄和血清生化异常，在妊娠18周时转诊接受羊膜穿刺术。在培养的羊水中观察到一条无随体、单着丝粒的标记染色体，频率为57%。父母核型正常。使用CEP16和WCP16探针通过荧光原位杂交（FISH）发现该标记染色体源自16号染色体。标记染色体未被M-FISH探针混合物染色，表明其完全为异染色质性质。使用从未培养的羊水中分离的基因组DNA进行的比较基因组杂交（CGH）分析也支持M-FISH结果。已向父母提供遗传咨询，家人决定继续妊娠至足月。婴儿在妊娠36周出生，无任何畸形特征。7个月大时的随访显示无发育异常。
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