Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members

Subtelomeric 6p monosomy and 12q trisomy

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

✍ C. Nur Semerci; Mine Cinbis; Reinhard Ullmann; Anne Steininger; Muhterem Bahce; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 2 views

## 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,