Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.

Abstract excerpt

Bloom syndrome (BS) is an autosomal recessive disorder characterized by prenatal and postnatal growth deficiency, photosensitive skin changes, immune deficiency, insulin resistance, greatly increased risk of early-onset cancer, and the development of multiple malignancies. Few cases of BS diagnosed during the prenatal period have been reported. Here, I present the comprehensive clinical and genetic...

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• Amniocentesis
• Bloom Syndrome
• DNA Copy Number Variations
• Exome Sequencing
• Fetal Growth Retardation