๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Inverted duplication of 8p: Ten new patients and review of the literature

โœ Scribed by Feldman, Gerald L. ;Weiss, Lester ;Phelan, Mary C. ;Schroer, Richard J. ;VanDyke, Daniel L.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
450 KB
Volume
47
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Inherited inverted duplication of X chro
โœ Shapira, Moshe; Dar, Hanna; Bar-El, Hanna; Bar-Nitzan, Noga; Even, Lea; Borochow ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 43 KB ๐Ÿ‘ 2 views

Nineteen cases of duplication of segments of the long arm of chromosome X have been published in 13 males and in 6 females. We report an additional case of a male with growth and mental retardation, growth hormone deficiency, compensated primary hypothyroidism, distinctive anomalies of the face, hyp

Duplication 3p syndrome: Report of a new
โœ Charrow, Joel ;Cohen, Maimon M. ;Meeker, Diana ;Opitz, John M. ๐Ÿ“‚ Article ๐Ÿ“… 1981 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 332 KB ๐Ÿ‘ 1 views

## Abstract A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21โ†’pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include lo

Chromosome 10p11.2-p12.2 duplication: Re
โœ M๏ฟฝgarban๏ฟฝ, Andr๏ฟฝ ;Gosset, P. ;Souraty, N. ;Lapierre, J.M. ;Korban, R. ;Zahed, L. ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 203 KB ๐Ÿ‘ 1 views

We report on a young male with mental retardation, slightly upslanting palpebral ยฎssures, strabismus, high-arched palate, retrognathia, and ยฏat feet. Cytogenetic analysis in addition to ยฏuorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chrom

A report of pure 7p duplication syndrome
โœ E. Papadopoulou; S. Sifakis; C. Sarri; J. Gyftodimou; T. Liehr; K. Mrasek; M. Ka ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 142 KB ๐Ÿ‘ 2 views

## Abstract We report on a case of a 9โ€monthโ€old female infant with a direct duplication of the 7p13โ€p22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional Gโ€banding detected a partial 7p duplication, which was further demons