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Paracentric inversion of chromosome 15(q15q24): description of three families

โœ Scribed by Elvira D'Alessandro; Corinna Matteis; Maria Luisa Lo Re; Mario Cola; Claudio Ligas; Francesco Cappa; Giuseppe DelPorto


Publisher
Springer
Year
1991
Tongue
English
Weight
256 KB
Volume
87
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


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-born children with multiple abnormalities, were present.


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Paracentric inversion of the X chromosom
โœ Briault, Sylvain; Odent, Sylvie; Lucas, Josette; Le Merrer, Martine; Turleau, Ca ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 16 KB ๐Ÿ‘ 2 views

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