%0 Case Reports
%T Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.
%A Malinverni ACM
%A Yamashiro Coelho ÉM
%A Chen K
%A Colovati ME
%A Soares Pinho Cernach MC
%A Bragagnolo S
%A Melaragno MI
%J Cytogenet Genome Res
%V 153
%N 2
%D 2017
%M 29258104
%F 1.941
%R 10.1159/000485282
%X 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.