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
American Journal of Medical Genetics, Part A, cilt.152, sa.7, ss.1724-1729, 2010 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 152 Sayı: 7
- Basım Tarihi: 2010
- Doi Numarası: 10.1002/ajmg.a.33383
- Dergi Adı: American Journal of Medical Genetics, Part A
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.1724-1729
- Anahtar Kelimeler: aCGH, FISH, Partial trisomy 12q, Subtelomeric 6p deletion
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Hayır
Özet
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.