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syndróm fragilného chromozómu X
SYS d005600 LBL 00000nx--j22000003--45-- 005 20240119201431.2 100 $a 19920422csloy0103----ba0 152 $b mesh 250 $a syndróm fragilného chromozómu X $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $8 slo 300 1-
$a 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90 $8 eng 300 1-
$a Mental Retardation/genetics (1966-1982) $8 eng 300 1-
$a Sex Chromosomes (1968-1982) $8 eng 300 1-
$a X Chromosome (1978-1982) $8 eng 330 1-
$a 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) $8 eng 450 $a FRAXA Syndrome $5 e $8 eng 450 $a FRAXE Syndrome $5 e $8 eng 450 $a Martin-Bell Syndrome $5 e $8 eng 450 $a FRAXA syndróm $5 e $8 slo 450 $a FRAXE syndróm $5 e $8 slo 450 $a Martinov-Bellov syndróm $5 e $8 slo 550 $3 sllk_un_auth*d002873 $Y Chromosome Fragility $5 B $a fragilita chromozómov 550 $3 sllk_un_auth*d043283 $Y Chromosome Fragile Sites $5 F $a miesta chromozómov fragilné 550 $3 sllk_un_auth*d002873 $Y Chromosome Fragility $5 F $a fragilita chromozómov 550 $3 sllk_un_auth*d008607 $Y Intellectual Disability $5 F $a postihnutie intelektuálne 550 $3 sllk_un_auth*d019680 $Y Trinucleotide Repeat Expansion $5 F $a expanzia trinukleotidových repetícií 550 $3 sllk_un_auth*d019680 $Y Trinucleotide Repeat Expansion $5 B $a expanzia trinukleotidových repetícií 550 $3 sllk_un_auth*d043283 $Y Chromosome Fragile Sites $5 B $a miesta chromozómov fragilné 686 $a C10.597.606.360.455.500 686 $a C16.131.260.830.300 686 $a C16.320.180.830.300 686 $a C16.320.322.500.500 686 $a C16.320.400.525.500 750 $a Fragile X Syndrome $8 eng 801 -0
$a US $b DNLM $c 19920422 801 -2
$a SK $b BA006 $c 20010108 980 $x M
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