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J Med Case Rep. 2011 Jun 29;5:250. doi: 10.1186/1752-1947-5-250.
2
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Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes.卵巢早衰：一种生殖潜能方面的危急状况，存在多种遗传病因。
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本文引用的文献

1
Diminished ovarian reserve in a woman with a balanced 13;21 translocation.一名携带平衡易位13;21的女性卵巢储备功能减退。
Fertil Steril. 2009 Mar;91(3):931.e3-5. doi: 10.1016/j.fertnstert.2008.07.1726. Epub 2008 Sep 30.
2
Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome.一名唐氏综合征患者的嵌合体显示出受精后罗伯逊易位和等臂染色体的形成。
Am J Med Genet A. 2003 Jan 15;116A(2):159-63. doi: 10.1002/ajmg.a.10113.
3
Genes and translocations involved in POF.与卵巢早衰相关的基因和易位。
Am J Med Genet. 2002 Aug 15;111(3):328-33. doi: 10.1002/ajmg.10565.
4
Autosomal translocation associated with premature ovarian failure.与卵巢早衰相关的常染色体易位。
J Med Genet. 2000 May;37(5):E2. doi: 10.1136/jmg.37.5.e2.
5
Age at onset of dementia and age of menopause in women with Down's syndrome.唐氏综合征女性患痴呆症的发病年龄及绝经年龄。
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Increased concentrations of follicle-stimulating hormone in mothers of children with Down's syndrome.唐氏综合征患儿母亲体内促卵泡激素浓度升高。
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Premature ovarian failure associated with a Robertsonian translocation.与罗伯逊易位相关的卵巢早衰。
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一名患有平衡易位15;21的女性的卵巢早衰：病例报告

Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report.

作者信息

Hosseini Sayedehafagh, Vahid Dastjerdi Marzieh, Asgari Zahra, Samiee Haydeh

机构信息

Arash University Hospital, Department of Obstetrics & Gynecology, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

J Med Case Rep. 2011 Jun 29;5:250. doi: 10.1186/1752-1947-5-250.

DOI:10.1186/1752-1947-5-250
PMID:21714880
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3150317/
Abstract

INTRODUCTION

A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date.

CASE PRESENTATION

We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Robertsonian 15;21 translocation.

CONCLUSIONS

The diagnosis of premature ovarian failure of unknown etiology, but with karyotypic evidence of a balanced autosomal translocation, suggests the possible role of autosomal genes in the pathogenesis of ovarian follicular attrition.

摘要

引言

本文报告一例卵巢早衰病例，同时伴有15号和21号染色体之间罗伯逊易位的相关发现。迄今为止，上述核型异常在卵巢早衰的背景下尚未见报道。

病例介绍

我们报告一例27岁不孕的库尔德伊朗女性卵巢早衰病例，伴有15;21罗伯逊易位。

结论

病因不明的卵巢早衰诊断，但有常染色体平衡易位的核型证据，提示常染色体基因在卵巢卵泡耗损发病机制中可能起作用。