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黏液瘤、斑点状色素沉着和内分泌功能亢进综合征的显性遗传。

Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity.

作者信息

Carney J A, Hruska L S, Beauchamp G D, Gordon H

出版信息

Mayo Clin Proc. 1986 Mar;61(3):165-72. doi: 10.1016/s0025-6196(12)61843-6.

Abstract

We describe a family in which lentigines were present in the index patient, in three of her seven siblings, in their mother, and in a niece (the daughter of an affected sister). Cutaneous myxomas were present in the index patient, in two of her brothers, and probably in their mother. In addition, the index patient had two cardiac myxomas. multiple myxoid mammary fibroadenomas, and the Cushing syndrome, and an affected brother had acromegaly caused by a growth hormone-secreting tumor of the pituitary gland. Thus, at least one manifestation of the complex of myxomas, spotty pigmentation, and endocrine overactivity has occurred in three successive generations of this family. Both male and female family members were affected, and 5 of the 11 children of affected persons had the disorder. The karyotypes of two affected persons were normal. These observations are consistent with mendelian dominant inheritance of the syndrome.

摘要

我们描述了一个家族,该家族中的先证者、她的七个兄弟姐妹中的三个、他们的母亲以及一个侄女(一位患病姐妹的女儿)都有雀斑样痣。先证者、她的两个兄弟以及他们的母亲可能都有皮肤黏液瘤。此外,先证者有两个心脏黏液瘤、多个黏液样乳腺纤维腺瘤和库欣综合征,一位患病兄弟因垂体分泌生长激素的肿瘤而患有肢端肥大症。因此,黏液瘤、斑点状色素沉着和内分泌功能亢进综合征的至少一种表现已在这个家族的连续三代中出现。家族中的男性和女性成员均受影响,患者的11个孩子中有5个患有该疾病。两名患者的染色体核型正常。这些观察结果与该综合征的孟德尔显性遗传一致。

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