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Article

Prenatal phenotype of Wolf-Hirschhorn syndrome: A case series and literature review.

Molecular genetics & genomic medicine - 1 Jun 2023

Tang Feng, Zeng Yang, Wang Li, Yin Daishu, Chen Lin, Xie Dan, Wang Jing

Abstract excerpt

OBJECTIVE: Wolf-Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. It is associated with a heterozygous deletion of chromosome 4p16.3. Adequate knowledge of prenatal phenotypes and proper prenatal counseling are essential for intrauterine diagnosis. METHOD: We retrospectively analyzed 11 prenatal cases of WHS diagnosed using low-depth whole-genome sequencing (copy number...

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Identifiers

PMID: 36849216
DOI: 10.1002/mgg3.2155
PMCID: PMC10265096

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