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A Malformed Boy with Double Aneuploidy and Diploid-Triploid Mosaicism 48, XXYY/71, XXXYY
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A Malformed Boy with Double Aneuploidy and Diploid-Triploid Mosaicism 48, XXYY/71, XXXYY
作者:
W. Schmid,
D. Vischer,
期刊:
Cytogenetic and Genome Research
(Karger Available online 1967)
卷期:
Volume 6,
issue 2
页码: 145-155
ISSN:1424-8581
年代: 1967
DOI:10.1159/000129935
出版商: S. Karger AG
数据来源: Karger
摘要:
An 11-month-old boy is described with severe developmental retardation, colobomata of both eyes, peculiar facies, syndactylies of the fingers and multiple minor malformations. Lymphocyte cultures showed the karyotype 48, XXYY, whereas, a skin fibroblast culture gave a mixture of diploid and triploid cells with the karyotypes 48, XXYY and 71,XXXYY respectively. In the triploid cell line only one of the three X chromosomes is allocyclic, as demonstrated by H3-TdR labeling and by sex chromatin studies.
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