{Reference Type}: Case Reports
{Title}: Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.
{Author}: Malinverni ACM;Yamashiro Coelho ÉM;Chen K;Colovati ME;Soares Pinho Cernach MC;Bragagnolo S;Melaragno MI;
{Journal}: Cytogenet Genome Res
{Volume}: 153
{Issue}: 2
{Year}: 2017
{Factor}: 1.941
{DOI}: 10.1159/000485282
{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)×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.