Počet záznamov: 1
Jacobsenov syndróm distálnej delécie 11q
SYS d054868 LBL 00000nx--j2200000---45-- 005 20240119200608.4 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a Jacobsenov syndróm distálnej delécie 11q $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 2008 $8 eng 300 1-
$a Chromosomes, Human, Pair 11 (1986-2007) $8 eng 330 1-
$a A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia. $8 eng 450 $a 11q Deletion Disorder $5 e $8 eng 450 $a Jacobsen Syndrome $5 e $8 eng 450 $a porucha s deléciou 11q $5 e $8 slo 450 $a Jacobsenov syndróm $5 e $8 slo 686 $a C15.378.140.855.440 686 $a C15.378.243.937.440 686 $a C16.131.260.440 686 $a C16.320.180.440 750 $a Jacobsen Distal 11q Deletion Syndrome $8 eng 801 -0
$a SK $b BA006 $c 20080318 980 $x M
Počet záznamov: 1