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Clinical variability of partial duplication 1q: A clinical report and literature review

✍ Scribed by Rosenthal, J. ;Abeliovich, D. ;Carmi, R. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
560 KB
Volume
27
Category
Article
ISSN
0148-7299

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πŸ“œ SIMILAR VOLUMES


Duplication of part of chromosome 1q: Cl
✍ Michels, Virginia V. ;Berseth, Carol Lynn ;O'Brien, John F. ;Dewald, Gordon ;Opi πŸ“‚ Article πŸ“… 1984 πŸ› John Wiley and Sons 🌐 English βš– 606 KB

We report a male infant with a 47,XY, +der(22),t( 1 ;22)(q32;qll)pat karyotype. Thus, he has duplication of chromosomes l(q32'qter) and 22(pter-\*qll). Six patients with dup l(q32'qter) and eight with dup l(q42-tqter) have been described. These two groups of patients share several manifestations,

Duplication of distal 19q: Clinical repo
✍ Boyd, Ellen ;Grass, Frank S. ;Parke, James C. ;Knutson, Kam ;Stevenson, Roger E. πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 404 KB πŸ‘ 2 views

## Abstract We report on a 20‐month‐old boy with duplication of the distal part of 19q. His karyotype is 46, XY, βˆ’22, + der(22), t(19;22) (q13.3; p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. Thes

Trisomy 20q caused by interstitial dupli
✍ Pierre Blanc; Laetitia Gouas; Christine Francannet; Michel Giollant; Philippe Va πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 117 KB πŸ‘ 1 views

## Abstract We report on a 3‐year‐old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q1