-

chromosomal microarray analysis cannot detect balanced inversions, balanced translocations, or

all cases of tissue mosaicism.
First trimester spontaneous abortions:
o autosomal trisomies (239/388 [61.6%]) > triploidy (62 cases, 16%) > monosomies (41
cases, 10.6%) > tetraploidy (17 cases, 4.4%).
o The single most common anomaly observed was trisomy 16 (73 cases, 18.8%).
o The frequency of trisomies, with the exception trisomy 16, was related with advanced
maternal age
Fertility:
o XO Turner 2% has kids
o XXY kleinfelter can have kids with treatment
o XXXY variant of Kleinfelter
o XYY variable sperm function, many mosaic, some presents with infertility but mostly
okay if extra Y is lost during meiosis and spermatogenesis.
Term live borns: downs male > kleinfelter > turner > patau trisomy 13