A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
See also reference (FX) in Slovak
miesta chromozómov fragilné fragilita chromozómov postihnutie intelektuálne expanzia trinukleotidových repetícií
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
See also reference (FX) in Slovak
anticipácia genetická miesta chromozómov fragilné fragilita chromozómov syndróm fragilného chromozómu X dystrofia myotonická
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
See also reference (FX) in Slovak
zlom chromozómový miesta chromozómov fragilné syndróm fragilného chromozómu X expanzia trinukleotidových repetícií
