MOSAIC TETRASOMY 15Q25-]QTER IN A NEWBORN-INFANT WITH MULTIPLE ANOMALIES

Citation
A. Vandenenden et al., MOSAIC TETRASOMY 15Q25-]QTER IN A NEWBORN-INFANT WITH MULTIPLE ANOMALIES, American journal of medical genetics, 63(3), 1996, pp. 482-485
Citations number
17
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
63
Issue
3
Year of publication
1996
Pages
482 - 485
Database
ISI
SICI code
0148-7299(1996)63:3<482:MT1IAN>2.0.ZU;2-U
Abstract
We describe a premature boy with metopic craniosynostosis, facial anom alies, atrial-septal defect, hydronephrosis and flexion contractures o f lower limbs, and mosaic tetrasomy 15q25 --> qter. The extra chromoso me material was present in the form of an acentric marker. A number of clinical manifestations observed in this child were also found in 3 p reviously reported patients who were trisomic for the same part of chr omosome 15 and in 2 patients who were tetrasomic for a larger segment of 15q. (C) 1996 Wiley-Liss, Inc.