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Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

✍ Scribed by Kenji Naritomi; Yoshinori Izumikawa; Satoshi Ohshiro; Kaoru Yoshida; Nobuyuki Shimozawa; Yasuyuki Suzuki; Tadao Orii; Kiyotake Hirayama

Publisher
Springer
Year
1989
Tongue
English
Weight
250 KB
Volume
84
Category
Article
ISSN
0340-6717

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✦ Synopsis

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 syndrome associated with a rearrangement of chromosome 7, the tentative gene assignment to 7q11 being further supported; the gene is probably confiend to 7q11.23.

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