Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency: A case report and literature review

RATIONALE: 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality with incomplete penetrance and phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 15q11.2 microdeletion are rare. PATIENT CONCERNS: A 30-year-old woman was referred for genetic...

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Gepubliceerd in:Medicine (Baltimore)
Hoofdauteurs: Sun, Meiling, Yue, Fagui, Yu, Yang, Li, Leilei, Jiang, Yuting, Zhang, Hongguo, Liu, Ruizhi
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Lippincott Williams & Wilkins 2020
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7535770/
https://ncbi.nlm.nih.gov/pubmed/33019446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000022496
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