Chromosomal Microarray Analysis Cannot Detect Balanced Inversions
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- 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 case s, 18.8%). o The frequency of trisomies, with the exce ption 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 me iosis and spermatogenesis. - Term live borns: downs male > kleinfelter > turner > patau trisomy 13
description
chromosal microarray
Transcript of Chromosomal Microarray Analysis Cannot Detect Balanced Inversions
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- 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
