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