Case Reports
doi: 10.1002/(sici)1096-8628(19991222)87:5<391::aid-ajmg4>3.0.co;2-o.
Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome
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- PMID: 10594876
- DOI: 10.1002/(sici)1096-8628(19991222)87:5<391::aid-ajmg4>3.0.co;2-o
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Case Reports
Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome
Am J Med Genet.
.
Abstract
A syndrome of mental retardation and multiple congenital anomalies, including craniosynostosis and overgrowth, was observed in two related individuals from a large kindred. Both of them carried a 15q25.1-qter trisomy associated with a subtle 13qter monosomy resulting from unbalanced segregation of a familial t(13;15)(q34;q25.1) translocation. Reportedly, a further individual in this kindred has the same condition. The present report confirms previous claims that gene(s) in the distal 15q region play a role in suture formation. At the same time it adds new data to the delineation of a 15q25-qter trisomy syndrome.
Copyright 1999 Wiley-Liss, Inc.
Comment in
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No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients.Am J Med Genet. 2001 Mar 1;99(2):166-7. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1140>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11241482 No abstract available.
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