辛普森-戈拉比-贝梅尔综合征伴包括GPC3在内的240kb从头缺失的性早熟病例。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-06-09 DOI:10.1038/s41439-022-00196-8

Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi

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引用次数: 0

摘要

在这里，我们报告了一名患有Simpson-Golabi-Behmel综合征的日本患者，其中包括GPC3的一部分重新缺失240kb。患者在出生前和出生后均出现巨大儿，伴有面部粗大、头大、乳头过多、隐睾，并以性早熟为特征性表现，在实际年龄11.5岁时多表现为青春期提前15岁。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

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Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

Here, we report a Japanese patient with Simpson-Golabi-Behmel syndrome involving a de novo 240-kb deletion including a part of GPC3. The patient showed pre- and postnatal macrosomia associated with coarse face, macrocephaly, supernumerary nipples, and cryptorchidism and characteristically presented with precocious puberty, mostly evaluated as advanced pubertal age of 15 years at the chronological age of 11.5 years.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks