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

✍ Scribed by C. Nur Semerci; Mine Cinbis; Reinhard Ullmann; Anne Steininger; Muhterem Bahce; Baki Yagci; Serap Ozden; Nuran Sabir; Dilihan Gumus; Emre Tepeli; Jazmín Arteaga; Osvaldo M. Mutchinick

• Publisher: John Wiley and Sons
• Year: 2010
• Tongue: English
• Weight: 174 KB
• Volume: 152A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.33383

✦ Synopsis

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. © 2010 Wiley‐Liss, Inc.