Article
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.
Cytogenetic and genome research - 1 Jan 2017
Malinverni Andréa C M, Yamashiro Coelho Érika M, Chen Kelin, Colovati Mileny E, Soares Pinho Cernach Mirlene C, Bragagnolo Silvia, Melaragno Maria Isabel
Abstract excerpt
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...
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