𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Erratum: Golden WL, Sudduth KW, Burnett SH, Kelly TH. Mosaicism in Praeder-Willi syndrome: detection using fluorescent in situ hybridization. Am J Med Genet 85:424-425

✍ Scribed by Gaspar, D. A.; Pavanello, R. C.; Zatz, M.; Passos-Bueno, M. R.; Andr�, M.; Steman, S.; Wyszynski, D. F.; Matiolli, S. R.

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
420 B
Volume
87
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19991119)87:2<200::aid-ajmg16>3.0.co;2-9

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mosaicism in Prader-Willi syndrome: Dete
Mosaicism in Prader-Willi syndrome: Detection using fluorescent in situ hybridization
✍ Golden, Wendy L.; Sudduth, Kathy W.; Burnett, Susan H.; Kelly, Thaddeus E. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 3 KB 👁 2 views

Fig. 1. a: Representative GTG-banded chromosome 15s demonstrating lack of a detectable deletion, b: representative cell from FISH analysis demonstrating the normal signal pattern for SNRPN found in 11/39 cells, and c: Representative cell from the same FISH analysis demonstrating a deletion of SNRPN

Mosaicism in Prader-Willi syndrome
Mosaicism in Prader-Willi syndrome
✍ Nicholls, Robert D. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 4 KB 👁 2 views

Several recent studies have suggested the presence of mosaicism for a deletion, detected by fluorescence in situ hybridization (FISH), within chromosome 15q11-q13 in Prader-Willi syndrome (PWS) [Mowery-Rushton et al., 1996;Malzac et al., 1998;Golden et al., 1999]. However, the evidence supporting mo

Clinical, cytogenetic, and fluorescence
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ?complete ring? syndrome
✍ Sigurdardottir, S.; Goodman, B. K.; Rutberg, J.; Thomas, G. H.; Jabs, E. W.; Ger 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 1 views

The term "ring syndrome" was proposed to describe a phenotype of growth failure without major malformations due to a ring autosome. The growth failure is thought to be caused by instability of the ring chromosome leading to aneusomy and cell death. Most previous studies of ring chromosomes were base

Dual-probe fluorescence in situ hybridiz
Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci
✍ Berend, Sue Ann; Spikes, Aimee S.; Kashork, Catherine D.; Wu, Jessica M.; Daw, S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB

Over 90% of patients with DiGeorge syndrome (DGS) or velocardiofacial syndrome (VCFS) have a microdeletion at 22q11.2. Given that these deletions are difficult to visualize at the light microscopic level, fluorescence in situ hybridization (FISH) has been instrumental in the diagnosis of this disord

Genetic counseling in Angelman syndrome:
Genetic counseling in Angelman syndrome: Gonadal mosaicism
✍ Stalker, Heather J.; Williams, Charles A.; Wagstaff, Joseph 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

Recently we published a review about genetic counseling and the provision of risk information in Angelman syndrome (AS) ]. However, since then, new evidence indicates that gonadal mosaicism may affect recurrence risk in the subset of AS patients who are affected as the result of UBE3A gene mutations