Bibliographic Citation
| Document | For copies of Journal Articles, please contact the Publisher or your local public or university library and refer to the information in the Resource Relation field. For copies of other documents, please see the Availability, Publisher, Research Organization, Resource Relation and/or Author (affiliation information) fields and/or Document Availability. |
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| Title | Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: Clinical observations and genetic analysis |
| Creator/Author | Kobayashi, M. ; Kaplan, B.S. ; Sartore, M. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)] [and others] |
| Publication Date | 1995 Nov 06 |
| OSTI Identifier | OSTI ID: 443813 |
| Other Number(s) | Journal ID: AJMGDA; ISSN 0148-7299; TRN: TRN: 96:006301-0012 |
| Resource Type | Journal Article |
| Resource Relation | Journal Name: American Journal of Medical Genetics; Journal Volume: 59; Journal Issue: 2; Other Information: PBD: 6 Nov 1995 |
| Subject | 55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; UROGENITAL SYSTEM DISEASES; CONGENITAL DISEASES; PHENOTYPE; CONGENITAL MALFORMATIONS; GENETICS; GENES; GENETIC MAPPING; HUMAN CHROMOSOME 16; DOMINANT MUTATIONS; BIOLOGICAL MARKERS; POLYMERASE CHAIN REACTION |
| Description/Abstract | Congenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three-generation kindred of a spectrum of kidney anomalies consistent with an autosomal-dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grandmother), infundibulopelvic stenosis (uncle), and multicystic kidney (male proband, age 4 years). The proband`s mother, father and half sister had normal renal imaging studies. Inheritance of informative polymorphic markers (3{prime}-HVR, GGG1, GGG9, SM-7, KG8, and CW3) mapping close to the adult polycystic kidney disease type 1 (PKD-1) and tuberous sclerosis (TSC-2) loci on chromosome 16p was evaluated by Southern blot typing for linkage to phenotype. The 3 affected individuals, as well as the unaffected mother (obligate carrier) and unaffected half-sister, inherit a common chromosome haplotype linked to the PKD1 locus. Our findings support the hypothesis that these anomalies may be part of a spectrum of obstructive renal dysplasia which are inherited as a simple Mendelian trait exhibiting an autosomal-dominant mode of transmission with variable expressions and incomplete penetrance. 23 refs., 4 figs. |
| Country of Publication | United States |
| Language | English |
| Format | Medium: X; Size: pp. 218-224 |
| System Entry Date | 2009 Dec 16 |
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