We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with this chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46,XY,-22,der(22),t(6;22)(q21;p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.
|Original language||English (US)|
|Number of pages||4|
|State||Published - 1981|
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