A TURKISH FAMILY WITH ELLIS-VAN CREVELD SYNDROME IN SIX SIBLINGS; LINKAGE ANALYSIS ON 4p16 REGION (D4S3360-D4S2366)

Cagdas D. N., Parlar A. İ., Pac A., Tutun U., Pac M., Balci S.

GENETIC COUNSELING, vol.19, no.4, pp.387-395, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 4
  • Publication Date: 2008
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.387-395
  • Kütahya Health Sciences University Affiliated: No

Abstract

A Turkish family with Ellis-van Creveld syndrome in six siblings: linkage analysis on 4p16 region (D4S3360-D4S2366): We present a Turkish family and their 6 children, consecutively affected by Ellis-van Creveld (EVC) Syndrome. Four of the affected children died in the postnatal period, and 2 of them had been admitted to the pediatric cardiology derailment for their cardiologic evaluation. Since they had the features of the EVC Syndrome, linkage analysis was performed with the polymorphic markers, D4S3360-D4S2366, selected from 4p 16 locus. There was complete segregation between the disease and market allels and the two affected siblings were homozygote for the polymorphic markers, as expected in autosomal recessive inheritance. The diagnosis of EVC Syndrome was confirmed by this molecular analysis, Two cases with EVC were presented in this report. Case I had partial abnormal pulmonary venous return and Pulmonary stenosis additional to ostium primum atrial septal defect and mitral cleft. Partial abnormal pulmonary venous return and pulmonary stenosis were previously not reported with EVC Syndrome. Postaxial polydactyly phenotype of the Case 2 differs front tier brother's. There is bifid 5th metacarpal and unilateral (L) bifid middle and distal phalanges resembling syndactyly.