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Mosaicism with a normal cell line and an unbalanced structural rearrangement

✍ Scribed by Zaslav, Ann-Leslie; Fallet, Shari; Blumenthal, Donna; Jacob, Jessy; Fox, Joyce

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 26 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990101)82:1<15::aid-ajmg3>3.0.co;2-6

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✦ Synopsis

Mosaicism with a normal cell line (N) and an unbalanced autosomal structural rearrangement (UASR) is rare. This report describes a case of a newborn female with a karyotype of 46,XX,der(4)t(4;15)(q35;q22)/46,XX. Molecular cytogenetic analysis confirmed the origin of the derivative chromosome 4. Here we discuss this case as well as other cases of mosaic karyotypes involving N/UASR.

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