Maternal origin and clinical findings in a case with trisomy 22

Creative Commons License

Mihci E., Tacoy S., Yakut S., Ongun H., Keser I., Kilicarslan B., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.49, sa.3, ss.322-326, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 3
  • Basım Tarihi: 2007
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.322-326
  • Anahtar Kelimeler: trisomy 22, atrioseptal defect (ASD), fluorescence in situ hybridization (FISH), cleft palate, newborn infant, maternal origin, INFANT, NEWBORN
  • Akdeniz Üniversitesi Adresli: Evet

Özet

We report a newborn girl with multiple congenital anomalies whose chromosomal analysis showed complete trisomy 22. Her phenotype included microcephaly, epicanthus, hypertelorism, micrognathia, cleft palate, microtia, and preauricular tag. She died in the 24,h post-natal hour. Trisomy 22 was shown by fluorescence in situ hybridization technique and the parental origin of the extra chromosome was found to be maternal by DNA microsatellite marker analysis of chromosome 22. Postmortem examination revealed the presence of atrioseptal defect and stasis in the biliary canals. We believe that this patient will contribute to the literature both by clinical findings and short life span associated with maternal origin of extra chromosome 22.