A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization.
In: Journal of Intellectual Disability Research, Jg. 42 (1998-06-01), Heft 3, S. 254-258
Online
academicJournal
Zugriff:
A case is presented in which monosomy 21 was detected by routine cytogenetics and fluorescence in situ hybridization (FISH) studies demonstrated an unbalanced translocation t(5;21). The patient was partially monosomic for both 5p and 21q. The phenotype of the infant showed some features of the 5p- (cri-du-chat) syndrome, but there were also features present which were uncharacteristic of this syndrome. The present findings, combined with similar cases reported in the literature, provide further support for a proximal monosomy 21q syndrome. [ABSTRACT FROM AUTHOR]
| Titel: |
A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization.
|
|---|---|
| Autor/in / Beteiligte Person: | Flaherty, L ; Moloney, J ; Watson, N ; Robson, L ; Bousfield, L ; Smith, A |
| Link: | |
| Zeitschrift: | Journal of Intellectual Disability Research, Jg. 42 (1998-06-01), Heft 3, S. 254-258 |
| Veröffentlichung: | 1998 |
| Medientyp: | academicJournal |
| ISSN: | 0964-2633 (print) |
| DOI: | 10.1046/j.1365-2788.1998.00118.x |
| Schlagwort: |
|
| Sonstiges: |
|