Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Cafe-au-Lait Macules and Review of the Literature

Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Cafe-au-Lait Macules and Review of the Literature

Author Malinverni, Andrea C. M. Autor UNIFESP Google Scholar
Yamashiro Coelho, Erika M. Autor UNIFESP Google Scholar
Chen, Kelin Google Scholar
Colovati, Mileny E. Autor UNIFESP Google Scholar
Soares Pinho Cernach, Mirlene C. Autor UNIFESP Google Scholar
Bragagnolo, Silvia Autor UNIFESP Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
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
Keywords Cafe-au-lait macules
Deletion 21q
Monosomy 21q
Unbalanced translocation
xmlui.dri2xhtml.METS-1.0.item-coverage Basel
Language English
Sponsor Sao Paulo Research Foundation (FAPESP), Brazil
Grant number FAPESP: 2014/11572-8
Date 2017
Published in Cytogenetic And Genome Research. Basel, v. 153, n. 2, p. 81-85, 2017.
ISSN 1424-8581 (Sherpa/Romeo, impact factor)
Publisher Karger
Extent 81-85
Origin http://dx.doi.org/10.1159/000485282
Access rights Closed access
Type Article
Web of Science ID WOS:000423084600004
URI https://repositorio.unifesp.br/handle/11600/55345

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