一名存活新生儿的16号染色体镶嵌三体性。
Mosaic trisomy 16 in a live newborn infant.
作者信息
Gilbertson N J, Taylor J W, Kovar I Z
机构信息
Department of Paediatrics, Charing Cross Hospital, London.
出版信息
Arch Dis Child. 1990 Apr;65(4 Spec No):388-9. doi: 10.1136/adc.65.4_spec_no.388.
Abstract
Trisomy 16 is thought to be incompatible with fetal survival. A boy with mosaic trisomy 16 who lived for 11 weeks is reported. Chromosome analysis was carried out on skin fibroblasts grown during life and confirmed on samples taken at necropsy. We believe that this is the first report of mosaic trisomy 16 that has been confirmed by cytogenetic banding.
摘要
16三体被认为与胎儿存活不相容。本文报告了一名患有嵌合型16三体的男孩，其存活了11周。对其生前培养的皮肤成纤维细胞进行了染色体分析，并在尸检时采集的样本上得到了证实。我们认为这是首例经细胞遗传学显带证实的嵌合型16三体报告。
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