一例疑似与血清IgA缺乏相关的+i(18p)病例报告。
A case report of a presumptive +i(18p) associated with serum IgA deficiency.
作者信息
Ogata K, Iinuma K, Kammura K, Morinaga R, Kato J
出版信息
Clin Genet. 1977 Mar;11(3):184-8. doi: 10.1111/j.1399-0004.1977.tb01297.x.
Abstract
The case of a 4-month-old male infant with retarded psychomotor development and multiple anomalies is presented. Cytogenetic studies on peripheral blood and skin cultures revealed a normal male complement with a supernumerary small metacentric chromosome. According to its size and its banding patterns, the metacentric chromosome was postulated to be an isochromosome for the short arm of number 18. A deficiency of serum IgA was observed in this patient.
摘要
本文报告了一例4个月大男性婴儿，其精神运动发育迟缓且伴有多种异常。对外周血和皮肤培养物进行的细胞遗传学研究显示，该婴儿具有正常男性染色体组，并伴有一条额外的小中着丝粒染色体。根据其大小和带型，推测这条中着丝粒染色体是18号染色体短臂的等臂染色体。该患者血清IgA缺乏。
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