Pericentric X chromosome ascertained during antenatal diagnosis.
A pericentric inversion of an X chromosome [46,X,inv(X)(p11q28] with no detectable deletions was ascertained by amniocentesis for prenatal diagnosis in a 42-year-old woman. No defintive counsel could be offered as such an inversion had not been previously reported. At 1 year, the infant appears normal. These data and the review of other recently published karyotypes suggest an absence of a somatic position effect in the human X chromosome and possible biases of ascertainment or possible alternative karyotypic interpretations of some previously reported inv(X) cases.
D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002875:Chromosomes; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis