| Full text | |
| Author(s): |
Malinverni, Andrea C. M.
[1, 2]
;
Yamashiro Coelho, Erika M.
[1]
;
Chen, Kelin
[1]
;
Colovati, Mileny E.
[1]
;
Soares Pinho Cernach, Mirlene C.
[1]
;
Bragagnolo, Silvia
[1]
;
Melaragno, Maria Isabel
[1]
Total Authors: 7
|
| Affiliation: | [1] Univ Fed Sao Paulo, Dept Morphol & Genet, Genet Div, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Dept Pathol, Mol Pathol Lab, Sao Paulo - Brazil
Total Affiliations: 2
|
| Document type: | Review article |
| Source: | Cytogenetic and Genome Research; v. 153, n. 2, p. 81-85, 2017. |
| Web of Science Citations: | 0 |
| Abstract | |
Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45, XX, add(12)(p13) dn,-21 karyotype. The final cytogenomic result was 45, XX, der(12) t(12; 21)(p13; q22.11) dn,-21. arr{[}hg19] 21q11.2q22.11(14824453\_33868129) x1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and cafe-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature. (c) 2017 S. Karger AG, Basel (AU) | |
| FAPESP's process: | 14/11572-8 - Chromosomal rearrangements and their relevance in the etiology of genetic disorders: cytogenomic and molecular investigation |
| Grantee: | Maria Isabel de Souza Aranha Melaragno |
| Support Opportunities: | Research Projects - Thematic Grants |