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Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome

✍ Scribed by Zollino, Marcella; Tiziano, Francesco; Di Stefano, Cristina; Neri, Giovanni

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 24 KB
Volume: 87
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991222)87:5<391::aid-ajmg4>3.0.co;2-o

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✦ Synopsis

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.

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