Table 2.

Cytogenetic and molecular genetic findings

Time of sample collection	Tissue	Genetic testing	Karyotype (percentage of trisomic cells)
Gestational week 21	Cultured amniocytes	Chromosome analysis	47,XX,+12 (33%)
	Uncultured amniocytes	Interphase FISH	47,XX,+12 (29%)
	Uncultured amniocytes	Array-CGH	47,XX,+12 (40%)
Neonate	Blood	Chromosome analysis	46,XX
	Blood	Interphase and metaphase FISH	46,XX
5 weeks of age	Uncultured urinary cells	Interphase FISH	47,XX,+12 (28%)
8 weeks of age	Blood	Interphase FISH	47,XX,+12 (3.5%)
	Blood	Chromosome analysis	46,XX

Array-CGH array-comparative genomic hybridization, FISH fluorescence in situ hybridization