Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis - clinical report of 3 new cases and review of the literature.

Ginekologia polska(2022)

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摘要
The 1p36 terminal deletion results in many clinical manifestations, but the specificity of clinical features are not high. Prenatal sonographic findings such as CNS, CHD may act as suggestive signs of 1p36 deletion or other microdeletion/duplication syndromes.
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关键词
1p36 terminal deletion,chromosomal microarray analysis,prenatal diagnosis,prenatal ultrasound findings
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