Partial trisomy for the distal long arm of chromosome 5 (region q34→qter). A new clinically recognizable syndrome

Partial duplication of the long arm of c

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

✍ Zollino, Marcella; Tiziano, Francesco; Di Stefano, Cristina; Neri, Giovanni 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 3 views

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