INCIDENCE AND SIGNIFICANCE OF CHROMOSOME MOSAICISM INVOLVING AN AUTOSOMAL STRUCTURAL ABNORMALITY DIAGNOSED PRENATALLY THROUGH AMNIOCENTESIS: A COLLABORATIVE STUDY

摘要: Among 179,663 prenatal diagnosis cases collected from ten institutions and two publications, 555 (0.3 per cent) were diagnosed as having chromosome mosaicism. Of these, 57 (10.3 mosaic for an autosomal structural abnormality, 28 (5 a sex 85 (15.3 marker chromosome. Ninety-five of prenatally mosaicism with abnormality in autosome normal cell line, known phenotypic outcome, karyotype-phenotype correlations through our collaboration (40 cases), prior survey (26 published reports (29 cases). They included 13 balanced reciprocal translocations, one unbalanced translocation, four Robertsonian inversions, 17 deletions, three ring chromosomes, 19 i(20q), seven +i(12p), six other isochromosomes, partial trisomies resulting duplication or rearrangement. All rearrangement resulted phenotype. 46/46,i(20q) liveborns. Five 46/47,+i(12p) had abnormal phenotype compatible Killian-Pallister syndrome. The overall risk outcome case excluding 46/47,+i(12p), is 40.4 cent. In the same category, study also suggested correlation between percentage cells For involving terminal deletion, possibility familial fragile site should be considered.