| Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. | |
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MedLine Citation:
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PMID: 18022449 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus. |
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Authors:
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Juan C Prieto; Nilda M Garcia; Frederick F Elder; Andrew R Zinn; Linda A Baker |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of pediatric surgery Volume: 42 ISSN: 1531-5037 ISO Abbreviation: J. Pediatr. Surg. Publication Date: 2007 Nov |
Date Detail:
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Created Date: 2007-11-20 Completed Date: 2008-01-04 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0052631 Medline TA: J Pediatr Surg Country: United States |
Other Details:
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Languages: eng Pagination: 1928-32 Citation Subset: IM |
Affiliation:
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Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9110, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
/
diagnosis,
genetics* Child Chromosome Aberrations* Chromosomes, Human, Pair 22 / genetics* Genetic Predisposition to Disease Heterozygote Hirschsprung Disease / diagnosis, genetics* Humans Infant Male Phenotype Prognosis Risk Assessment Syndrome Translocation, Genetic* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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