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syndróm fragilného chromozómu X
SYS d005600 LBL 00000nz--a2200000o--4500 005 20250606214424.6 008 920422|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.597.606.360.455.500 065 $a C16.131.260.830.300 065 $a C16.320.180.830.300 065 $a C16.320.322.500.500 065 $a C16.320.400.525.500 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a FRAXA Syndrome $2 eng 450 $w v $a FRAXE Syndrome $2 eng 450 $w v $a Martin-Bell Syndrome $2 eng 450 $w v $a FRAXA syndróm $2 slo 450 $w v $a FRAXE syndróm $2 slo 450 $w v $a Martinov-Bellov syndróm $2 slo 550 $7 sllk_us_auth*d002873 $Y Chromosome Fragility $w b $a fragilita chromozómov 550 $7 sllk_us_auth*d002873 $Y Chromosome Fragility $w p $a fragilita chromozómov 550 $7 sllk_us_auth*d008607 $Y Intellectual Disability $w p $a postihnutie intelektuálne 550 $7 sllk_us_auth*d019680 $Y Trinucleotide Repeat Expansion $w p $a expanzia trinukleotidových repetícií 550 $7 sllk_us_auth*d043283 $Y Chromosome Fragile Sites $w p $a miesta chromozómov fragilné 550 $7 sllk_us_auth*d019680 $Y Trinucleotide Repeat Expansion $w b $a expanzia trinukleotidových repetícií 550 $7 sllk_us_auth*d043283 $Y Chromosome Fragile Sites $w b $a miesta chromozómov fragilné 665 $a 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90 $2 eng 665 $a Mental Retardation/genetics (1966-1982) $2 eng 665 $a Sex Chromosomes (1968-1982) $2 eng 665 $a X Chromosome (1978-1982) $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Fragile X Syndrome $2 eng 980 $x M
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