𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18

✍ Scribed by Stankiewicz, Pawe? ;Brozek, Izabela ;H�lias-Rodzewicz, Zofia ;Wierzba, Jolanta ;Pilch, Jacek ;Bocian, Ewa ;Balcerska, Anna ;Wo?niak, Agnieszka ;Karda?, Iwona ;Wirth, Jutta ;Mazurczak, Tadeusz ;Limon, Janusz


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
435 KB
Volume
101
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Supernumerary ring chromosome 8: Clinica
✍ Demori, Eliana ;Devescovi, Raffaella ;Benussi, Daniela Gambel ;Dolce, Silvia ;Ca 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 1 views

## Abstract We report on a 3‐year‐old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centro

Constitutional ring chromosome 11 mosaic
✍ Massimo Carella; Filippo Spreafico; Orazio Palumbo; Clelia Tiziana Storlazzi; Si 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 212 KB 👁 1 views

## Abstract We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,‐11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral bl

Cytogenetic and molecular studies of a f
✍ Liou, Jui-Der; Ma, Yen-Ying; Gibson, Lisa H.; Su, Hua; Charest, Nancy; Lau, Yun- 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 232 KB 👁 1 views

Here we describe the first reported case of a patient with a familial paracentric inversion in the long arm of the Y chromosome and ambiguous genitalia. FISH analyses with Y chromosome YACs demonstrated that the inversion breakpoints of the patients and the father's Ys appear to be the same and lie