与小头畸形和智力迟钝相关的两个相互易位。
Two reciprocal translocations associated with microcephaly and retardation.
作者信息
Bell E F, Warburton D
出版信息
J Med Genet. 1977 Apr;14(2):141-2. doi: 10.1136/jmg.14.2.141.
Abstract
The first case is reported of a karyotype containing two apparently unrelated reciprocal translocations, involving chromosomes 1, 2, 5, and 7. It is suggested that the patient's psychomotor retardation and microcephaly may be the result of the loss of a small amount of chromosomal material accompanying these translocations.
摘要
首例被报道的核型包含两个明显不相关的相互易位，涉及1号、2号、5号和7号染色体。有观点认为，患者的精神运动发育迟缓及小头畸形可能是伴随这些易位而丢失少量染色体物质的结果。
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