Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child.
Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis. We present a male infant who was diagnosed prenatally by ultrasonography. He died at two months of age in a septic stage. The genetic defect for ARPCD has been mapped to chromosomal region of 6p21-cen. This represents the first study from this region of the world. The linkage studies up to this date fall to show genetic heterogeneity.
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
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Beşbaş
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Ozen
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Saatçi
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Cağlar
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Mucher
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Zerres
D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D017809:Fatal Outcome; D018740:Genetic Heterogeneity; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging* / Q000235:genetics*; D014421:Turkey; D016216:Ultrasonography, Prenatal