The Turkish Journal of Pediatrics 2007 , Vol 49 , Num 3
Maternal origin and clinical findings in a case with trisomy 22
1Departments of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey
2Departments of Medical Biology and Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey
3Departments of Pathology, Akdeniz University Faculty of Medicine, Antalya, Turkey
Mıhçı E, Taçoy Ş, Yakut S, Ongun H, Keser İ, Kılıçarslan B, Bağcı G, Lüleci G. Maternal origin and clinical findings in a case with trisomy 22. Turk J Pediatr 2007; 322-326.

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 24th 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. Keywords : trisomy 22, atrioseptal defect (ASD), fluorescence in situ hybridization (FISH), cleft palate, newborn infant, maternal origin

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