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神经性厌食症与黄色突变白化病并发。

Concurrence of anorexia nervosa and yellow mutant albinism.

作者信息

Kelly J T, Rohde J, Witkop C J, Johannes A

出版信息

J Med Genet. 1980 Feb;17(1):68-71. doi: 10.1136/jmg.17.1.68.

DOI:10.1136/jmg.17.1.68
PMID:7365767
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048495/
Abstract

A review of published clinical reports shows that anorexia nervosa has been found in association with several genetic anomalies, principally gonosomal aneuploidy. An additional, and unique, association is described here: a case of anorexia nervosa in a patient with the yellow mutant form of oculocutaneous albinism and no other apparent chromosomal abnormalities. While the concurrence of these two disorders in a single person is apparently a chance phenomenon, our review of experimental publications shows that feeding disturbances also occur in yellow mutant mice. Such complementary findings suggest the need for continuing investigation of the genetic foundations of eating behaviour.

摘要

对已发表临床报告的回顾表明,神经性厌食症与多种基因异常有关,主要是性染色体非整倍体。本文描述了另外一种独特的关联:一名患有黄色突变型眼皮肤白化病且无其他明显染色体异常的患者出现了神经性厌食症。虽然这两种疾病在同一个人身上同时出现显然是一种偶然现象,但我们对实验性出版物的回顾表明,黄色突变小鼠也会出现进食障碍。这些互补性的发现表明有必要继续研究饮食行为的遗传基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3095/1048495/1978f350a720/jmedgene00123-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3095/1048495/1978f350a720/jmedgene00123-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3095/1048495/1978f350a720/jmedgene00123-0076-a.jpg

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1
Concurrence of anorexia nervosa and yellow mutant albinism.神经性厌食症与黄色突变白化病并发。
J Med Genet. 1980 Feb;17(1):68-71. doi: 10.1136/jmg.17.1.68.
2
Gonosomal aneuploidy in anorexia nervosa.神经性厌食症中的性染色体非整倍性。
Am J Hum Genet. 1974 Mar;26(2):195-8.
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Concurrence of anorexia nervosa and Noonan syndrome.厌食症与努南综合征并存。
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Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).白化病-耳聋综合征(蒂茨综合征)中MITF基因的突变。
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Anorexia nervosa and 'Turner syndrome': cause or coincidence?
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Urogenital malformations associated with anorexia nervosa.与神经性厌食症相关的泌尿生殖系统畸形。
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