✦ LIBER ✦

Partial trisomy 8: Trisomy of the distal part of the long arm of chromosome number 8+(8q2) in a severely retarded and malformed girl

✍ Scribed by J. P. Fryns; H. Verresen; H. Berghe; J. Kerckvoorde; J. J. Cassiman

Publisher: Springer
Year: 1974
Tongue: English
Weight: 348 KB
Volume: 24
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00283593

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Interstitial deletion of the long arm of

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation

✍ P. Franceschini; M. Cirillo Silengo; G. Davi; R. Bianco; M. Biagioli 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 279 KB

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