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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.