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Balanced reciprocal translocation mosaicism associated with an abnormal phenotype

✍ Scribed by Aughton, David J. ;AlSaadi, Abdul A. ;Canady, Alexa I. ;Lucas, Barbara M.

Book ID
102703051
Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
644 KB
Volume
45
Category
Article
ISSN
0148-7299

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✦ Synopsis

Balanced reciprocal translocation mosaicism is rarely reported in humans. Only two previous cases have been associated with an abnormal phenotype. We report on a third case of apparently balanced reciprocal translocation mosaicism associated with an abnormal phenotype, largely different from those reported previously. Since low levels of mosaicism may not be detected in routine cytogenetic analyses, balanced reciprocal translocation mosaicism may be associated with an abnormal phenotype more often than has been recognized to date.

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Low level mosaicism for a balanced 7;14
Low level mosaicism for a balanced 7;14 translocation in the father of an abnormal 7q + child
✍ Sciorra, Leonard J. ;Schlenker, Ellen ;Toke, David ;Brady-Yasbin, Sheila ;Day-Sa πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 207 KB πŸ‘ 2 views

A child with a 7q + chromosome abnormality had a father with 0.5% mosaicism for a balanced 7;14 translocation. This mosaicism was not found in 100 fibroblasts. This degree of mosaicism is well below the limits usually detected by standard clinical cytogenetic protocols. However, the one abnormal cel