Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature

Gokpinar E., Altiner Ş., KARABULUT H. G.

CYTOGENETIC AND GENOME RESEARCH, sa.2, ss.74-80, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1159/000503574
  • Dergi Adı: CYTOGENETIC AND GENOME RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.74-80
  • Anahtar Kelimeler: Derivative chromosome 18, Genotype-phenotype correlation, Partial dup(18q), del(18p), Tracheoesophageal fistula, MATERNAL PERICENTRIC-INVERSION, PROXIMAL 18P MONOSOMY, RECOMBINANT CHROMOSOME-18, PARTIAL DUPLICATION, EDWARDS-SYNDROME, TRISOMY, DELETION, FAMILY, DUP(18Q)/DEL(18P), ABNORMALITIES
  • Ankara Üniversitesi Adresli: Evet

Özet

We present a patient with a de novo derivative chromosome 18 which includes a terminal deletion of 18p and a terminal duplication of 18q accompanied by a cryptic duplication of 18p. The girl had mild dysmorphic features such as micro-retrognathia, upslanted palpebral fissures, bilateral epicanthus, high palate, low-set ears, short neck, and full cheeks. She also had an H-type tracheoesophageal fistula which required surgery. Her cognitive and motor skills were delayed. Karyotype analysis showed an additional segment on the short arm of chromosome 18. Chromosomal microarray revealed a 7.3-Mb terminal loss from 18p11.32 to 18p11.23, a 22.2-Mb terminal gain from 18q21.31 to 18q23, and a 3.9-Mb interstitial gain from 18p11.22 to 18p11.21. We hypothesize that the mother has gonadal mosaicism for normal chromosome 18, der(18)dup(p11.22p11.21), and der(18)dup(p11. 22p11.21)inv(18)(p11.22q21.31), or both the terminal del/dup and the interstitial duplication occurred simultaneously.