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., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.51, no.5, pp.453-459, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 5
  • Publication Date: 2009
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.453-459
  • Keywords: mental retardation, fluorescence in situ hybridization, subtelomeric FISH, MOLECULAR CHARACTERIZATION, 3Q29 MICRODELETION, TERMINAL DELETIONS, INDIVIDUALS, FEATURES, REGION, 1P36, 5P
  • Akdeniz University Affiliated: Yes

Abstract

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].