A MOLECULARLY CHARACTERIZED INTERSTITIAL DELETION ENCOPASSING THE 11q14.1-q23.3 REGION IN A CASE WITH MULTIPLE CONGENITAL ABNORMALITIES

Cetin Z., ALTIOK-CLARK O., Yakut S., GUZEL-NUR B., MIHÇI E., Berker-Karauzum S.

GENETIC COUNSELING, cilt.27, sa.1, ss.51-66, 2016 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 1
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.51-66
  • Anahtar Kelimeler: 11q14.1-q23.3 deletion, Chromosome 11, Interstitial deletion, Multiple congenital abnormality, LONG ARM, DEVELOPMENTAL DELAY, 11Q DELETION, CHROMOSOME-11, GIRL, BOY
  • Akdeniz Üniversitesi Adresli: Evet

Özet

A molecularly characterized interstitial deletion encompassing the 11q14.1-q23.3 region in a case with multiple congenital abnormalities: Interstitial deletion of chromosome 11 long arm is a rare event. In most of the interstitial deletions on the long arm of chromosome 11 both the position and the size of these deletions are heterogeneous making a precise karyotype-phenotype correlation. In only a few of the reported cases has the deletion been molecularly characterized. Our patient was a 13-year-old male presented; mental motor retardation, strabismus, myopia, retinopathy, sensorineural hearing loss, a long and triangular face, a broad forehead, hypotelorism, nasal septal deviation, a beaked nose, hypoplastic ala nasie, bilateral low-set ears, a high arched palate, crowded teeth, retrognathia, thin lips, a long neck, and sloping shoulders, hyperactive behavior, pulmonary stenosis and lumbar scoliosis. Conventional cytogenetic analysis revealed 46,XY,del(11)(q14.1-q23.3) karyotype in the patient. Array-CGH analysis of the patient's DNA revealed an interstitial deletion encompassing 33.2 Mb in the 11q14.1-q23.3 genomic region (chrl1: 83,161,443-116,401,751; Hg19). In this report, we present a patient with an interstitial deletion on the long arm of chromosome 11 that encompassed the 11q14.1-q23.3 region; and, using array-CGH analysis, we molecularly characterized the deleted region.