Article describes chromosome 10p microdeletion symptoms in a newborn child. Also includes discussion of HDR syndrome and the loss of the GATA3 gene.
Association of hypoparathyroidism, hearing impairment and renal defects is known as Barakat syndrome (or HDR syndrome). This condition is caused by the deletion or mutation of the GATA3 gene, located at 10p14.. Involvement of more proximal segments of 10p may cause aplasia of the thymus and congenital heart defects. Relatively large (> 10 Mb) terminal deletions of the short arm of chromosome 10 are very rare. The authors report a newborn girl with a 12.5 Mb terminal deletion of 10p, who revealed motor delay, facial dysmorphism (hypertelorism, broad nasal root, micrognathia, high arched palate, low set ears), swallowing difficulties and hypoparathyroidsm causing hypocalcemia (low level of the blood calcium). At the same time there were no abnormalities in her thymus, heart and urinary system. A brainstem auditory evoked potentials test showed no indication of hearing dysfunction. Therefore, even a complete loss of the GATA3 gene does not guarantee that the patient will have all manifestations of HDR syndrome. Facial dysmorphism and swallowing problems may be caused by the loss of the genes on the distal segment of 10p (10p15.3).
Pan Y.-Q. and Fu J.-H. “Case report: clinical description of a patient carrying a 12.48 Mb microdeletion involving the 10p13-15.3 region”. “Frontiers in Pediatrics” 2021, v. 9:603666.
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