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Article

DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype-phenotype variability in fetal ultrasound and MRI.

Prenatal diagnosis - 1 Dec 2019

Tramontana Allessandra, Hartmann Beda, Hafner Erich

Abstract excerpt

OBJECTIVE: The aim of the study was to assess genotype-phenotype correlation of prenatally diagnosed fetal DGS and dup22q11 syndrome by fetal molecular genetic analysis, fetal ultrasound, and/or MRI. METHODS: In this retrospective consecutive case series, pregnant women were screened for fetal anomalies during a period of 10 years. Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal...

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Identifiers

PMID: 31647121
DOI: 10.1002/pd.5572

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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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