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 reg...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
1998-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3306 |
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| _version_ | 1850028808786149376 |
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| author | N Beşbaş S Ozen U Saatçi M Cağlar G Mucher K Zerres |
| author_facet | N Beşbaş S Ozen U Saatçi M Cağlar G Mucher K Zerres |
| author_sort | N Beşbaş |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-c02003ccf70145a69461f7622c413533 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 1998-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-c02003ccf70145a69461f7622c4135332025-08-20T02:59:42ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211998-04-01402Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish childN Beşbaş0S OzenU SaatçiM CağlarG MucherK ZerresDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. 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. https://turkjpediatr.org/article/view/3306 |
| spellingShingle | N Beşbaş S Ozen U Saatçi M Cağlar G Mucher K Zerres Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child The Turkish Journal of Pediatrics |
| title | Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child |
| title_full | Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child |
| title_fullStr | Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child |
| title_full_unstemmed | Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child |
| title_short | Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child |
| title_sort | autosomal recessive polycystic kidney disease mapping to chromosomal region of 6p21 cen in a turkish child |
| url | https://turkjpediatr.org/article/view/3306 |
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