Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations
Autor: | Linda Gammaro, G. Maschio, Sandro Rossetti, Alma Marcolongo, Bernard Peissel, Pier Franco Pignatti, Ezio Maria Padovani, Alberto Turco, Gian Paolo Chiaffoni |
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Rok vydání: | 1993 |
Předmět: |
Adult
Genetic Markers Male medicine.medical_specialty Pathology Foot Deformities Congenital Genotype Genetic Linkage Autosomal dominant polycystic kidney disease Locus (genetics) urologic and male genital diseases Bone and Bones Ultrasonography Prenatal Diagnosis Differential Pregnancy Internal medicine Genetics medicine Polycystic kidney disease Humans Syndactyly Genetics (clinical) Polycystic Kidney Autosomal Recessive Cystic kidney PKD1 Polydactyly urogenital system business.industry Haplotype Infant Newborn Polycystic Kidney Autosomal Dominant medicine.disease female genital diseases and pregnancy complications Pedigree Radiography Endocrinology Haplotypes Female Lod Score business Hand Deformities Congenital Chromosomes Human Pair 16 Follow-Up Studies Research Article |
Zdroj: | Scopus-Elsevier |
ISSN: | 1468-6244 |
DOI: | 10.1136/jmg.30.5.419 |
Popis: | We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (ARPKD). However, there was a positive family history for ADPKD. Linkage analysis was performed in 10 family members, of whom four were affected, using six flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and one marker linked to the putative PKD2 locus on chromosome 2p. Lod score determinations indicated that the affected gene in the family is most likely PKD1. The patient inherited the disease linked haplotype from his affected mother. |
Databáze: | OpenAIRE |
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