Maternal origin and clinical findings in a case with trisomy 22.
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.
Mihçi
Ercan
E
Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Taçoy
Sükran
S
Yakut
Sezin
S
Ongun
Hakan
H
Keser
Ibrahim
I
Kiliçarslan
Bahar
B
Bağci
Gülseren
G
Lüleci
Güven
G
D000015:Abnormalities, Multiple; D002892:Chromosomes, Human, Pair 22; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*