The detection of mosaicism by prenatal BoBs™
✍ Scribed by Cheng, Yvonne K.Y.; Wong, Cherry; Wong, Hoi Kin; Leung, Kwok On; Kwok, Yvonne K.; Suen, Andy; Wang, Chi Chui; Leung, Tak Yeung; Choy, Kwong Wai
- Book ID
- 118765716
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 504 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0197-3851
- DOI
- 10.1002/pd.4006
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We report the detection of a sex chromosome mosaicism (XY/XXY/XYY) by prenatal interphase FISH (fluorescence in situ hybridization) originally identified as a pseudomosaicism involving 47,XXY cells present in a routine 46,XY cytogenetic analysis. After a fetal demise, interphase FISH identified the
The clinical significance of mosaicism trisomy 20 detected prenatally following amniocentesis remains uncertain, due to the rarity of liveborn cases with inconsistent clinical findings, the short postnatal followup, and failure in evaluating other fetal tissues for the presence of the trisomy. We r