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4q13.2q21.23 deletion
Relevant markers:
Prominent cheeksPolyhydramniosShort long bonesClinodactyly 5th fingerSmall/collapsed/absent stomachNasal bone hypoplasia / aplasiaBrachycephalyBrachydactyly of fingersParents markers:Intrauterine growth retardation (IUGR/SGA/FGR)
References: 2024 Mol Genet Genomic Med Case report Read on PubMed Login for more details.