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[努南综合征患者1、9、16号染色体及Y染色体的C异染色质]

[The C heterochromatin of chromosomes 1, 9, 16 and Y in patients with Noonan's syndrome].

作者信息

Podugol'nikova O A, Solonichenko V G

出版信息

Tsitol Genet. 1994 May-Jun;28(3):85-8.

PMID:7974791
Abstract

A significant reduction in the total amount of C heterochromatin of chromosomes 1, 9, 16, and Y was detected in six patients with Noonan's syndrome. The results obtained do not contradict the results of our previous investigations of the correlation between a small amount of C heterochromatin and growth retardation. The clinical resemblance of Noonan's and Turner's syndromes with respect to the functional role of facultative and constitutive heterochromatin in early embryogenesis is discussed.

摘要

在6例努南综合征患者中,检测到1号、9号、16号染色体及Y染色体的C组异染色质总量显著减少。所得结果与我们之前关于少量C组异染色质与生长发育迟缓之间相关性的研究结果并不矛盾。本文讨论了努南综合征和特纳综合征在早期胚胎发育中兼性和结构性异染色质功能作用方面的临床相似性。

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