Malinverni Andréa C M, Yamashiro Coelho Érika M, Chen Kelin, Colovati Mileny E, Soares Pinho Cernach Mirlene C, Bragagnolo Silvia, Melaragno Maria Isabel
Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
Cytogenet Genome Res. 2017;153(2):81-85. doi: 10.1159/000485282. Epub 2017 Dec 20.
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.
