Document Detail

Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.
MedLine Citation:
PMID:  8574419     Owner:  NLM     Status:  MEDLINE    
We describe three unrelated, Scottish infants with the velocardiofacial/DiGeorge syndrome, all of whom have deletions of chromosome 22q11. Two of the infants had inherited the deletion from their mothers; the third infant's mother had clinical features although a deletion was not demonstrable in her. One infant had craniosynostosis associated with broad thumbs which may be a separate familial trait; however, at least one other 22q11 deleted individual with craniosynostosis is known and it is possible that craniosynostosis is a rare feature of this deletion syndrome. The second infant is the third reported case with isolated hypoparathyroidism and dysmorphic features associated with the 22q11 deletion. The variable clinical phenotype of these families with 22q11 deletion is discussed and compared with other reported families.
D De Silva; P Duffty; P Booth; I Auchterlonie; N Morrison; J C Dean
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  4     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  1995 Oct 
Date Detail:
Created Date:  1996-03-12     Completed Date:  1996-03-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  294-303     Citation Subset:  IM    
Department of Medical Genetics, Medical School, Foresterhill, Aberdeen, UK.
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MeSH Terms
Chromosome Aberrations / diagnosis*
Chromosome Deletion*
Chromosome Disorders
Chromosomes, Human, Pair 22*
Craniosynostoses / diagnosis,  genetics
DiGeorge Syndrome / diagnosis,  genetics
Family Health
Fatal Outcome
Genetic Heterogeneity
Heart Defects, Congenital / diagnosis,  genetics
Hypoparathyroidism / diagnosis,  genetics
Infant, Newborn

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