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Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression

✍ Scribed by Dotti, Maria Teresa; Malandrini, Alessandro; Bartolini, Stefano; Fabrizi, Gian Maria; Federico, Antonio


Book ID
122748822
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
451 KB
Volume
15
Category
Article
ISSN
0387-7604

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We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site