✦ LIBER ✦

Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies

✍ Scribed by Brahe, Christina ;Tassone, Flora ;Moscetti, Alessandra ;Millington-Ward, Athos ;Bova, Renato ;Serra, Angelo

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 437 KB
Volume: 37
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320370725

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Parental origin of de novo translocation

Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation

✍ Reilly, Dorothy S. ;Nussbaum, Robert L. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 2 views

Origin of extra chromosome 21 in 343 fam

Origin of extra chromosome 21 in 343 families: Cytogenetic and molecular approaches

✍ Bricarelli, F. Dagna ;Pierluigi, M. ;Grasso, M. ;Strigini, P. ;Perroni, L. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 425 KB 👁 1 views

Parental origin of de novo chromosome 9

Parental origin of de novo chromosome 9 deletions in del(9p) syndrome

✍ Micale, Mark A. ;Haren, J. Marie ;Conroy, Jeffrey M. ;Crowe, Carol A. ;Schwartz, 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 366 KB 👁 2 views

Origin of nondisjunction in trisomy 21 s

Origin of nondisjunction in trisomy 21 syndrome: All studies compiled, parental age analysis, and international comparisons

✍ Juberg, Richard C. ;Mowrey, Philip N. 📂 Article 📅 1983 🏛 John Wiley and Sons 🌐 English ⚖ 379 KB 👁 1 views

The Q-band polymorphism of chromosome 21 permits assignment of the origin of meiotic nondisjunction by parent and meiotic division in a certain proportion of cases. We have compiled all reports through 1982 (including earlier studies using structural abnormality) and have shown that maternal origin

Molecular cytogenetic analysis of a de n

Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations

✍ B. Gläser; K. Shirneshan; K. Bink; J. Wirth; H. Kehrer-Sawatzki; U. Bartz; B. Zo 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 2 views

Molecular cytogenetic characterization o

Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay

✍ G. von Beust; S.M. Sauter; T. Liehr; P. Burfeind; I. Bartels; H. Starke; F. von 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB 👁 2 views

## Abstract We report on a girl with mosaicism (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the