A 10-YEAR SURVEY, 1980-1990, OF PRENATALLY DIAGNOSED SMALL SUPERNUMERARY MARKER CHROMOSOMES, IDENTIFIED BY FISH ANALYSIS - OUTCOME AND FOLLOW-UP OF 14 CASES DIAGNOSED IN A SERIES OF 12 699 PRENATAL SAMPLES
A 10-YEAR SURVEY, 1980-1990, OF PRENATALLY DIAGNOSED SMALL SUPERNUMERARY MARKER CHROMOSOMES, IDENTIFIED BY FISH ANALYSIS - OUTCOME AND FOLLOW-UP OF 14 CASES DIAGNOSED IN A SERIES OF 12 699 PRENATAL SAMPLES
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DOI：
10.1002/pd.1970150705
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发表时间：
1995-07-01
影响因子：
3
通讯作者：
MIKKELSEN, M
中科院分区：
文献类型：
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作者：
BRONDUMNIELSEN, K;MIKKELSEN, M
对我院1980 ~ 1990年10年间12 699例产前样本中发现的14例标记染色体多余病例进行了细胞遗传学调查和随访研究。采用FISH（荧光原位杂交）技术鉴定标记染色体的染色体起源。5例为家族性，均来源于顶中心染色体，在儿童中均无明显的表型效应。9例为新生异常。在两个病例中（一个有来自14或22号染色体的标记，另一个有来自17号染色体的环状标记），妊娠继续，足月分娩了明显正常的婴儿，但有来自17号染色体标记的孩子在2岁时表现出轻微的精神运动迟缓。其他有新生标记的怀孕被终止了。在三个病例中，在尸检中发现了明显的异常。其中一人有同染色体12p，表型与帕利斯特-基利安综合征一致。总之，标记染色体鉴定以及临床随访对于改善遗传咨询至关重要。
A cytogenetic survey and follow-up studies were made of 14 cases with supernumerary marker chromosomes, identified among 12 699 prenatal samples, investigated at our institution over a 10-year period from 1980 to 1990. FISH (fluorescence in situ hybridization) techniques were employed to identify the chromosomal origin of the marker chromosomes. Five cases were familial, all derived from acrocentric chromosomes, and all without apparent phenotypic effects in the children. Nine cases represented de novo aberrations. In two cases (one with a marker from chromosome 14 or 22, the other with a ring-like marker derived from chromosome 17), the pregnancies continued and apparently normal babies were delivered at term, but the child with a marker derived from chromosome 17 showed slight psychomotor retardation at 2 years of age. Ah other pregnancies with de novo markers were terminated. In three cases, significant abnormalities were found at autopsy. One of these had an isochromosome 12p and the phenotype was consistent with Pallister-Killian syndrome. In conclusion, marker chromosome identification, as well as clinical follow-up, is essential for the purpose of improving genetic counselling.