title: The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers.
abstract: In this report we present precise data on the clinical, intellectual and behavioural findings in 7 young fra(X) positive girls. The two most common and most important findings are an overgrowth syndrome present from birth on and common behavioural features like severe attentional problems and extreme shyness and anxiety. These symptoms seem to constitute the major criteria for fra(X) screening in prepubertal girls. The findings in previous studies are compared with the present observations.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Borghgraef
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: H
authors.initials: H
authors.lastname: van den Berghe
mesh_terms: D000293:Adolescent; D001007:Anxiety / Q000209:etiology; D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology; D002648:Child; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D006130:Growth Disorders / Q000209:etiology; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007360:Intelligence; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012792:Shyness