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Pericentric inversion of chromosome 7 associated with recurrent abortion

✍ Scribed by A. Imai; T. Tamaya


Book ID
118892946
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
101 KB
Volume
52
Category
Article
ISSN
0020-7292

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The case of a newborn girl with Zellweger syndrome and a pericentric inversion of chromosome 7, 46,XX, inv(7)(p12q11.23), is reported. The diagnosis was confirmed by marked deficiency of peroxisomal beta-oxidation enzymes in hepatic cells from autopsy samples. This is the second case of Zellweger sy

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A balanced translocation was found in a normal female with a history of four abortions. On the basis of the Giemsa-banding pattern the abnormality was interpreted as to be a translocation of a part of the long arm of chromosome 13 to the short arm of chromosome some 7:t(7;13)(7qter leads to 7p22::13