Genetic counseling (Geneva, Switzerland) · 1997
Brachydactyly and short stature in a mother and her daughter with a fragile site at 16q22.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Stoll C, Roy-Doray B, Dott B, Alembik Y
Аннотация
A girl with short stature and brachydactyly had a fragile site at 16q22. Her mother had the same phenotype and the fragile site, too. These cases open the discussion of a possible association between a rare fragile site and an abnormal phenotype. Fragile sites are divided into two major groups, those which are rate and those which are common. The fragile site at 16q22 is a rare inductible fragile site. It is possible that the association between brachydactyly and the fragile site in a mother and her daughter may be due to chance. However rare fragile sites predispose to phenotypic abnormalities. The abnormal features in these two cases could be the result of the disruption of a gene involved in a skeletal development.