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.
Beşbaş
N
N
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Ozen
S
S
Saatçi
U
U
Cağlar
M
M
Mucher
G
G
Zerres
K
K
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