𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Ring Chromosome 20 Mosaicism in a Girl with Complex Partial Seizures

✍ Scribed by Irma Holopainen; Maila Penttinen; Taina Lakkata; Tuula Ä ärimaa

Book ID
115266297
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
358 KB
Volume
36
Category
Article
ISSN
0012-1622

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Dicentric Y-chromosome mosaicism in a gi
Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy
✍ Primarosa R. Chieri; K. Hirschhorn 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 172 KB

A 12-year-old girl with small stature and a hypertrophic clitoris was found to be mosaic for 45,X/46,X.dic(Y)(qtertop11:p11toqter)/46,XX/47,XX,dic(Y)(qtertop11:p11toqter). The dicentric chromosome was identified using Q-banding. These findings indicate mitotic instability of the dicentric Y, as well

Clinical findings in a patient mosaic fo
Clinical findings in a patient mosaic for a supernumerary ring chromosome 20
✍ Austin-Ward, Enrique Daniel; Castillo, Silvia; Dragnic, Yuri; Sanz, Patricia; Sa 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 2 views

Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these