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
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.