Maternal origin and clinical findings in a case with trisomy 22
Mihçi, E.; Taçoy, S.ük.; Yakut, S.; Ongun, H.; Keser, I.; Kiliçarslan, B.; Bağci, G.ül.; Lüleci, G.üv.
Turkish Journal of Pediatrics 49(3): 322-326
2007
ISSN/ISBN: 0041-4301 PMID: 17990591 Document Number: 612614
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.