A Unique Genomic Variant of HDR Syndrome in Newborn.

Background: HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.Case Characteristics: A male preterm infant presented with multiple dysmorphic features characterized by small for gestational age, hypognathia and facial abnormalities.Observation: Investigations revealed hypocalcemia and low parathyroid hormone levels and bilateral sensorineural deafness.Outcome: Chromosomal microarray analysis revealed a combination of deletion on chromosome 10p (10p15.3p14) with loss of GATA3 gene and duplication of chromosome 20p (20p13p12.3) as a result of unbalanced 10:20 translocation.Message: Detecting this syndrome at neonatal age is very important because it allows early intervention to minimize future clinical problems. [ABSTRACT FROM AUTHOR]

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