A Patient With 3q29 Microdeletion Syndrome


Adanur Sağlam K., Yüce Kahraman Ç., Yakar Ö., Cinkara N., Ercoşkun P., Tatar A.

14. ULUSAL TIBBİ GENETİK KONGRESİ“Uluslararası Katılımlı”, Ankara, Turkey, 20 - 22 November 2020, pp.77

  • Publication Type: Conference Paper / Summary Text
  • City: Ankara
  • Country: Turkey
  • Page Numbers: pp.77
  • Karadeniz Technical University Affiliated: No

Abstract

3q29 microdeletion syndrome results from a loss of 1.6 Mb at the terminal end of chromosome 3. Although most cases are de novo, familial cases have also been reported. The prevalence of the syndrome is 1: 30,000-1: 40,000. The most common findings are learning problems, speech delay, a high nasal bridge and ocular abnormalities. There is also a 40-fold increased risk for schizophrenia. Our 17-year-old female patient was born from unrelated parents; there was no history of a similar disease in the family. Genetic testing was performed because of psychosis, mild dysmorphic facial appearance and mental retardation. CGH Array analysis of the patient revealed a deletion on chr3: 195,762,817-197,356,334 and a duplication on chr3: 197,386,179-197,851,986. To our knowledge, the phenotype of the patient may be due to nonallelic homologous recombination (NAHR). NAHR explains the unity of deletion and duplication in juxtaposed regions. The number of cases reported in the literature is limited, which made us think that patients could not be diagnosed due to subtle dysmorphic findings. Therefore, we aimed to emphasize that microdeletion syndromes should be kept in mind for the patients who have mild dysmorphic findings and early-onset psychiatric diseases. Keywords: 3q29, microdeletion