Subtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies

MIHÇI E., ÖZCAN M., BERKER-KARAUZUM S., KESER İ., TACOY S., HAPSOLAT S., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.51, sa.5, ss.453-459, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 5
  • Basım Tarihi: 2009
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.453-459
  • Anahtar Kelimeler: mental retardation, fluorescence in situ hybridization, subtelomeric FISH, MOLECULAR CHARACTERIZATION, 3Q29 MICRODELETION, TERMINAL DELETIONS, INDIVIDUALS, FEATURES, REGION, 1P36, 5P
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malformation syndromes. We report on a cohort of 107 children with idiopathic MR and normal karyotype 450-550 band level by GTG banding screened for subtelomeric rearrangements by multiprobe fluorescence in situ hybridization (FISH). In these cases, five patients had de novo deletions (1p deletion was found in 2 cases; 3q deletion, 9p and 9q deletions were found in I case each) and four patients had unbalanced rearrangements [der(5)t(5;15)(pter;qter)pat in 2 patients who were siblings, rec(10)dup(10p)inv(10)(p13q26)mat in I patient and der(18)t(18;22)(qter;qter) de novo in I patient].