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Start Over Author "Vivienne McConnell" Journal clinical dysmorphology
2 results on '"Vivienne McConnell"'

1. Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome

Author

Vivienne McConnell, Deirdre E. Donnelly, and Peter D. Turnpenny

Subjects
Adult, Male, Adolescent, Northern Ireland, Pathology and Forensic Medicine, Young Adult, medicine, Missense mutation, Humans, Child, Gene, Genetics (clinical), Genetic Association Studies, Aged, Genetics, Family Health, Sotos Syndrome, business.industry, Sotos syndrome, Macrocephaly, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Bone age, General Medicine, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Penetrance, Phenotype, Pedigree, Nuclear receptor, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Histone Methyltransferases, Female, Anatomy, medicine.symptom, business
Abstract

Sotos syndrome is an overgrowth disorder with autosomal dominant inheritance caused by mutations and deletions in the nuclear receptor Set domain-containing protein 1 gene. In general, affected individuals have an advanced bone age, macrocephaly, characteristic facial gestalt and learning difficulties. Genotype-phenotype correlations are unclear. Full penetrance is seen and 95% of cases are de novo. Here, we report a three-generation pedigree, with at least eight affected individuals, shown to harbour the nuclear receptor Set domain-containing protein 1 missense mutation c. 6115C>T. To our knowledge, this is the largest Sotos family reported. The observed phenotype is extremely variable, thus highlighting the clinical heterogeneity that may occur.

Published
2011

2. An Irish three-generation family of Cornelia de Lange syndrome displaying autosomal dominant inheritance

Author

T. Brown, Patrick J. Morrison, and Vivienne McConnell

Subjects
Adult, Cornelia de Lange Syndrome, media_common.quotation_subject, Northern Ireland, Pathology and Forensic Medicine, Irish, De Lange Syndrome, Medicine, Humans, Genetics (clinical), media_common, Genes, Dominant, Genetics, Family Health, business.industry, Infant, General Medicine, medicine.disease, language.human_language, Pedigree, Phenotype, Face, Pediatrics, Perinatology and Child Health, language, Female, Anatomy, Inheritance, business, Maternal grandmother
Abstract

The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.

Published
2003

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