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Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities (1987)

Lin, C. C. ; Bowen, P. ; Hoo, J. J.

Springer

Human genetics 〈Berlin〉 75 (1987), S. 84-87

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary Two cases of familial paracentric inversion, one in the long arm of chromosome 2 and the other in the long arm of chromosome 8, are described. The first was ascertained in a woman who was studied because of recurrent abortions. The second was ascertained in the father of a girl with the trichorhinophalangeal syndrome and an interstitial deletion in 8q. The latter is the first case in which unequal crossing over in an inversion loop can be inferred in a male carrier of a paracentric inversion. The reasons for the relatively low frequency of paracentric inversions observed and factors which affect the pregnancy outcome are discussed.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00273848

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