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A new case of familial paracentric inversion of chromosome 2

โœ Scribed by Emilio Donti; Antonella Rosetti; Ida Carloni; Giovanna Venti Donti


Publisher
Springer
Year
1987
Tongue
English
Weight
248 KB
Volume
75
Category
Article
ISSN
0340-6717

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Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14.

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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