Interstitial Deletion of 14q24.3-q32.2 in a Male Patient With Plagiocephaly, BPES Features, Developmental Delay, and Congenital Heart Defects

CİNGÖZ S., Bache I., Bjerglund L., Ropers H., Tommerup N., Jensen H., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.155A, sa.1, ss.203-206, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 155A Sayı: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1002/ajmg.a.33766
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.203-206
  • Anahtar Kelimeler: 14q, BPES, developmental delay, interstitial deletion
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23 Mb. Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia. (C) 2010 Wiley-Liss, Inc.