Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the LiteratureMalinverni A.C.M.a, b · Yamashiro Coelho E.M.a · Chen K.a · Colovati M.E.a · Soares Pinho Cernach M.C.a · Bragagnolo S.a · Melaragno M.I.a
aGenetics Division, Department of Morphology and Genetics, and bMolecular Pathology Laboratory, Department of Pathology, Universidade Federal de São Paulo, São Paulo, Brazil
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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)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.
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