PMID: 9637423Jun 24, 1998Paper

4q33-qter deletion and absorptive hypercalciuria: report of two unrelated girls

American Journal of Medical Genetics
K ImamuraH Tochimaru

Abstract

We report on two unrelated girls with multiple malformations, each of whom had a der(4)t(4;?)(q33;?) chromosome--an unbalanced translocation chromosome with deletion of the 4q33-qter segment and addition of a segment of an unknown chromosome. One of the two girls had asymptomatic kidney stones. Both had excess urinary calcium excretion (0.53 and 0.84 mg/mg creatinine, respectively), exaggerated excretion on oral calcium load, and reduced but excessive excretion on restricted calcium intake. The urinary calcium excretion of their parents was normal. Both girls were thus diagnosed to have sporadic absorptive hypercalciuria. It was deduced that the 4q33-qter segment contains the putative gene for absorptive hypercalciuria.

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Citations

Jan 5, 2011·Clinical & Developmental Immunology·Mohammed Al-OwainSaleh Al-Muhsen
Feb 23, 2010·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Michael R MarkiewiczLeon A Assael
Apr 2, 2004·American Journal of Medical Genetics. Part a·Mario GiuffrèGiovanni Corsello
Apr 25, 2000·The Urologic Clinics of North America·C J Danpure
Jan 2, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Taosheng HuangStefan J T Vermeulen
Apr 28, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Tarak Srivastava, Uri S Alon
Nov 29, 2008·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Matthew VanlandinghamJun Zhang
Feb 4, 2005·Journal of the American Society of Nephrology : JASN·Orson W Moe, Olivier Bonny
Mar 25, 2009·Current Opinion in Pediatrics·Tarak Srivastava, Andrew Schwaderer

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