Number of the records: 1  

Klinefelterov syndróm

  1. SYSd007713
    LBL
      
    00000cz--a2200000o--4500
    005
      
    20250606212849.2
    008
      
    990101|||anznnbabn-----------|-a|a------
    040
      
    $b slo $a DNLM $d BA006
    065
      
    $a C12.050.351.875.253.795.500
    065
      
    $a C12.200.706.316.795.500
    065
      
    $a C12.800.316.795.500
    065
      
    $a C16.131.260.830.835.500
    065
      
    $a C16.131.939.316.795.500
    065
      
    $a C16.320.180.830.835.500
    065
      
    $a C19.391.119.795.500
    065
      
    $a C19.391.482.629
    066
      
    $a 01 $c 03
    150
      
    $a Klinefelterov syndróm $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
    680
    9-
    $i A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.). $2 eng
    680
      
    $a index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS $2 eng
    750
    -2
    $a Klinefelter Syndrome $2 eng
    980
      
    $x M
Number of the records: 1  

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