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

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Data
2017
Autores
Malinverni, Andrea C. M. [UNIFESP]
Yamashiro Coelho, Erika M. [UNIFESP]
Chen, Kelin
Colovati, Mileny E. [UNIFESP]
Soares Pinho Cernach, Mirlene C. [UNIFESP]
Bragagnolo, Silvia [UNIFESP]
Melaragno, Maria Isabel [UNIFESP]
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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
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Cytogenetic And Genome Research. Basel, v. 153, n. 2, p. 81-85, 2017.
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