An extra idic(21)(q22.1) in a child with some features of Down’s syndrome
Short report
| dc.creator | Gutiérrez Angulo, Melva | |
| dc.creator | Ramos, Al | |
| dc.creator | Dávalos, Nory O. | |
| dc.creator | Sánchez Corona, José | |
| dc.creator | Rivera, Horacio | |
| dc.date | 2015-06-25T16:09:04Z | |
| dc.date | 2015-06-25T16:09:04Z | |
| dc.date | 1999-03 | |
| dc.date.accessioned | 2023-07-21T21:39:12Z | |
| dc.date.available | 2023-07-21T21:39:12Z | |
| dc.identifier | Gutiérrez-Angulo, M., Ramos, A., Dávalos, N., Sánchez-Corona, J. and Rivera, H. (1999), An extra idic(21)(q22.1) in a child with some features of Down’s syndrome. Clinical Genetics, 55: 203–206. doi: 10.1034/j.1399-0004.1999.550309.x | |
| dc.identifier | 0009-9163 | |
| dc.identifier | http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/313 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/7752004 | |
| dc.description | A 30-month-old boy with mental retardation, hypotonia, joint hyperlaxity, Brushfield spots, open mouth, distal axial triradius t′′, and ulnar loops on both forefingers was found to have a 47,XY,+psu idic(21)(q22.1).ish psu idic(21)(q22.1)(D13Z1/D21Z1++,ETS2−) karyotype. The patient’s phenotype, with only some Down’s syndrome (DS) features, is probably related to his disomy for most or all of the critical region 21q22.2[RIGHTWARDS ARROW]q22.3 and agrees with the current notion that certain DS features may also result from 21q proximal duplications. The phenotypical comparison with 2 other patients with a similar extra idic(21) reveals some discrepancies, which may be related to the inherent clinical variability of similar imbalances; yet, a real difference between the tetrasomic segments cannot be excluded. Noticeably, all 3 patients with 21q proximal tetrasomy did not have cardiac defect and exhibited none or just one out of the five other DS phenotypic features attributed to a single gene or cluster on distal 21q22. | |
| dc.description | Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México. | |
| dc.language | en | |
| dc.publisher | Clinical Genetics | |
| dc.relation | Clinical Genetics;Volume 55, Issue 3, pages 203–206. | |
| dc.subject | Down’s syndrome | |
| dc.subject | karyotype–phenotype correlation | |
| dc.subject | 21q proximal tetrasomy | |
| dc.title | An extra idic(21)(q22.1) in a child with some features of Down’s syndrome | |
| dc.title | Short report | |
| dc.type | Article |