Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome

Abstract

We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, and skeletal anomalies. There is phenotypic overlap between our case and Mutchinick syndrome. This is the first report of a combined partial monosomy 6p and partial trisomy 12q due to an unbalanced translocation between subtelomeric regions of these chromosomes.

Correlação genótipo-fenótipo em pacientes portadores de translocação cromossômica aparentemente equilibrada

“…Partial trisomy 12q is a rarely observed chromosomal anomaly. Of the 50 previous cases of partial trisomy 12q, there are 13 that overlap with the same duplicated region present in our patients (12q24.31q24.33) [Zabel and Baumann, 1981;Tajara et al, 1985;Jardine et al, 1993;Rodriguez et al, 2003;Ireland et al, 2004;Lagier-Tourenne et al, 2004;Bao and Schorry 2005;Sathanoori et al, 2007;Semerci et al, 2010]. The sizes of the trisomies in the previous cases vary from 2.3 to 67.9 Mb, with more severe phenotypic effects being reported for more extensive trisomies.…”