Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement.
We report on a 16-week-old male fetus with partial trisomy 16 and partial monosomy 22 resulting from 3:3 adjacent-2 segregation of a maternal balanced complex chromosome translocation involving chromosomes 5, 16, and 22. The karyotype of the 29-year-old phenotypically normal mother was 46,XX,t(5;16;22)(q31.3;q12.1;q11.2). The karyotype of the fetus was 46,XY,der (5)t(5;16;22)(q31.3;q12.1;q11.2),+der(16) t(5;16;22)mat,-22. The fetus had multiple congenital anomalies, including bilateral cleft lip and palate.
Xu
J
J
Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Canada.
Chernos
J
J
Roland
B
B
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006801:Humans; D008297:Male; D009006:Monosomy / Q000235:genetics*; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*