Letters to the editor
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)
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EDITOR
Recently, Bernasconi
et al1 and Shaffer
et al2 described carriers of
isochromosomes 2p (i(2p)) and 2q (i(2q)). In both patients maternal
uniparental disomy (UPD) (2), the exceptional inheritance of both
chromosomes 2 from the mother, was detected. Isochromosome formation of
both the short and the long arms of a chromosome in one carrier is a
rare event. In addition to isochromosomes 2, there exist single reports
on only isochromosomes 4p and 4q,3 isochromosomes 7p and
7q,4 and isochromosomes 9p and 9q.5 In these
cases, the parental origin was determined and was mostly maternal.
The phenotypes of the carriers of i(2p) and i(2q) and maternal UPD(2)
are rather inconsistent. Bernasconi et
al1 reported a healthy woman with a history of five
spontaneous abortions. In contrast, the patient of Shaffer
et al2 showed features similar
to those of three maternal UPD(2) patients ascertained because of
confined placental mosaicism (CPM) for trisomy 2.6-8
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This article has been cited by other articles:
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Kotzot, D
(2008). Complex and segmental uniparental disomy updated. J. Med. Genet.
45: 545-556
[Abstract] [Full Text] -
Kotzot, D.
(2001). Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. J. Med. Genet.
38: 497-507
[Abstract] [Full Text]
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