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Article

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

Journal of clinical ultrasound : JCU - 1 Jan 2000

Ma Dan, Yuan Tao, Zhao Zhihui, Zeng Lan, Wang Jin, Nie Xiaocheng, Liang Huping, Pi Guanghuan, Chen Ai, Li Gen, Tang Biao, Zhu Shuyao

Abstract excerpt

We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39223774
DOI: 10.1002/jcu.23814

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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