Multiple Anomalies Associated with an Extra Small Autosome
作者:
A. Frøland,
Grethe Holst,
E. Terslev,
期刊:
Cytogenetic and Genome Research
(Karger Available online 1963)
卷期:
Volume 2,
issue 2-3
页码: 99-106
ISSN:1424-8581
年代: 1963
DOI:10.1159/000129771
出版商: S. Karger AG
数据来源: Karger
摘要:
A boy now aged two years has a number of congenital defects, including mental deficiency, cerebral atrophy, spastic tetraplegia, low-set, malformed ears, dental abnormalities and malformations of the extremities. Chromosome studies have revealed a modal number of 47, the extra chromosome being a very small metacentric chromosome. The karyotypes of the parents and of a brother showed nothing abnormal.
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