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[一名患有12号染色体三体的男孩因母源易位t(12;14)(q12;p11)的错误分离导致乳酸脱氢酶B活性增加]

[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

作者信息

Rethoré M O, Kaplan J C, Junien C, Cruveiller J, Dutrillaux B, Aurias A, Carpentier S, Lafourcade J

出版信息

Ann Genet. 1975 Jun;18(2):81-7.

PMID:1081369
Abstract

A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the monosomy, protruding occiput, large nose, hypoplasia of the anthelix, narrow palms, and decreased LDH-B activity.

摘要

将一名12号染色体短臂三体性的男婴与文献中已报道的另外三名12号染色体短臂三体患者以及三名12号染色体短臂单体患者进行了比较。观察到五个特征存在“类型与反类型”的对立:在三体患者中,有尖头畸形、鼻短、对耳轮突出、手掌宽以及乳酸脱氢酶B活性增加;在单体患者中,有枕骨突出、鼻大、对耳轮发育不全、手掌窄以及乳酸脱氢酶B活性降低。

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