PTEN变异胎儿的早发性巨大儿、脑成熟晚期和性腺母细胞样睾丸发育不良。

IF 2.7 2区医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2025-04-01 Epub Date: 2025-02-23 DOI:10.1002/pd.6765

Danielle C Lynch, Anna F Lee, Alison M R Castle

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摘要

我们报告一例男性胎儿与早发性巨大儿和致病变异的PTEN鉴定在大头畸形和过度生长测序面板。怀孕25周时结束。在尸检中，证实了巨大儿，并且大脑的成熟比内脏器官的成熟早了大约3周。显微镜下可见性腺母细胞发育不良，这是一种极其罕见的发现，从未与PTEN错构瘤肿瘤综合征（PHTS）相关。据我们所知，这是PTEN中具有杂合种系变异的产前表型的第一个报告。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Early-Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant.

We report a case of a male fetus with early-onset macrosomia and a pathogenic variant in PTEN identified on a macrocephaly and overgrowth sequencing panel. The pregnancy ended at 25 weeks gestation. On post-mortem examination, macrosomia was confirmed, and maturation of the brain was approximately 3 weeks ahead of that of the visceral organs. There was microscopic evidence of gonadoblastoid dysplasia, which is an extremely rare finding and has never been associated with PTEN hamartoma tumor syndrome (PHTS). To our knowledge, this is the first report of a prenatal phenotype with a heterozygous germline variant in PTEN.

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来源期刊

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling