Fragile-X Syndrome


M's of fragile-X Syndrome:

Male
Mental retardation
Macro orchidism
Mutation in FMR1 gene (caused by Methylation of part of chromosome)
Multiple CGG repeats
Maxillary excess (Long face)
Muscle tone decreased
Mothers (females) are obligatory carriers

DSM-4:
Discontinued chromosome staining
Shows anticipation
Male (male more affected)
Mental retardation (2nd most common genetic cause)
Macrognathia
Macroorchidism

Another mnemonic

Fragile X syndrome: features

FEMALES

FMR1 gene
Exhibits anticpation
Macro-orchidism
Autism
Long face with large jaw
Everted eyes
Second most common casue of genetic mental retardation


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