| Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. | |
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MedLine Citation:
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PMID: 8574419 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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D De Silva; P Duffty; P Booth; I Auchterlonie; N Morrison; J C Dean |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 4 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1995 Oct |
Date Detail:
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Created Date: 1996-03-12 Completed Date: 1996-03-12 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 294-303 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Medical School, Foresterhill, Aberdeen, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child Chromosome Aberrations / diagnosis* Chromosome Deletion* Chromosome Disorders Chromosomes, Human, Pair 22* Craniosynostoses / diagnosis, genetics DiGeorge Syndrome / diagnosis, genetics Family Health Fatal Outcome Female Genetic Heterogeneity Heart Defects, Congenital / diagnosis, genetics Humans Hypoparathyroidism / diagnosis, genetics Infant Infant, Newborn Male Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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