一名48,XXY,+21型唐氏综合征患者，额外存在一条来自父亲的X染色体和一条来自母亲的21号染色体。
A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21.
作者信息
Lorda-Sanchez I, Petersen M B, Binkert F, Maechler M, Schmid W, Adelsberger P A, Antonarakis S E, Schinzel A
机构信息
Institut für Medizinische Genetik der Universität, Zürich, Switzerland.
出版信息
Hum Genet. 1991 May;87(1):54-6. doi: 10.1007/BF01213092.
The origin of meiotic nondisjunction of the extra chromosomes X and 21 was studied in a patient with the karyotype 48,XXY,+21 using DNA polymorphisms. The extra chromosome X was the result of paternal first meiotic nondisjunction of X and Y. The extra chromosome 21 was derived from the mother. The meiotic error in the mother most probably occurred in meiosis II. Thus, this is a combination caused by the chance occurrence of two independent events.
利用DNA多态性对一名核型为48,XXY,+21的患者额外的X染色体和21号染色体减数分裂不分离的起源进行了研究。额外的X染色体是父本X和Y染色体第一次减数分裂不分离的结果。额外的21号染色体来自母亲。母亲的减数分裂错误很可能发生在减数第二次分裂。因此，这是由两个独立事件偶然发生导致的一种组合情况。
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