A patient with 9q subtelomeric deletion syndrome with additional findings.

Tuğ E., Cavdarli B., Karaoguz M., Perçin F. E.

Genetic counseling (Geneva, Switzerland), cilt.23, sa.4, ss.465-71, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 4
  • Basım Tarihi: 2012
  • Dergi Adı: Genetic counseling (Geneva, Switzerland)
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.465-71
  • Gazi Üniversitesi Adresli: Evet

Özet

A patient with 9q subtelomeric deletion syndrome with additional findings: We describe a one-year old girl, with a de nova segmental aneusomy due to the subtelomeric deletion of the long arm of chromosome 9, determined via fluorescence in situ hybridization technique. Common clinical findings of the 9q subtelomeric deletion syndrome are developmental delay, hypotonia, microcephaly and dysmorphic facial features especially including midface hypoplasia and low set ears. Sensorineural deafness, as a rare condition of the syndrome is also announced. Presented case with sensorineural deafness has most of the common clinical findings of the syndrome, except brachycephaly, downslanting palpebral fissures, synophrys, epicanthus and low set ears, and has also additional findings like microtia, asymmetric and simple ears, long curly eyelashes and fetal finger pads which are not reported previously.