RESUMEN

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.

Asunto(s)

Anomalías Múltiples/genética , Manchas Café con Leche/genética , Deleción Cromosómica , Cromosomas Humanos Par 21/ultraestructura , Cara/anomalías , Hipertonía Muscular/genética , Cromosomas Humanos Par 21/genética , Discapacidades del Desarrollo/genética , Femenino , Pérdida Auditiva Bilateral/genética , Humanos , Recién Nacido , Cariotipificación , Fenotipo , Escoliosis/genética