Key Clinical MessageWe report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA2 to a minimal overlapping region.
Few studies describe karyotypic abnormalities in simple bone cysts. We report the results of cytogenetic analysis of a case of simple bone cyst of the distal humerus in a patient with hypophosphatemic rickets with a t(7;12)(q21;q24.3) as the sole abnormality. To our knowledge, this is the third report of a cytogenetically characterized tumor of this type.
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