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Familial paracentric inversion in(2)(q31q36)

✍ Scribed by M. Schmid; R. Hofmann; J. Köhler; U. Jannek

Publisher
Springer
Year
1985
Tongue
English
Weight
245 KB
Volume
71
Category
Article
ISSN
0340-6717

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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 trichorhinop

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Three unrelated families with paracentric inversion of chromosome 15(q15q24) are reported. An additional pericentric inversion of chromosome 9 with breakpoints in p11.2q13 was also observed in one of the three families. Reproductive problems, such as stillbirths, spontaneous abortions and two live-b

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Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome
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FG syndrome is an X-linked incomplete recessive condition comprising mental retardation, congenital hypotonia, macrocephaly, a distinctive facial appearance, and constipation or anal malformations. Here, we report on a chromosome X inversion [inv(X)(q12q28)] in a boy with FG syndrome and in his ment