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Article

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.

Orphanet journal of rare diseases - 27 Sept 2023

Wang Yunan, Liu Chang, Hu Rong, Geng Juan, Lu Jian, Zhao Xin, Xiong Ying, Wu Jing, Yin Aihua

Abstract excerpt

OBJECTIVE: To share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome. METHODS: A retrospective study was conducted to evaluate seven cases of dup7q11.23 syndrome diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed, including maternal characteristics, indications for prenatal diagnosis, sonographic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37759207
DOI: 10.1186/s13023-023-02923-y
PMCID: PMC10523695

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