A male carrier for Duchenne muscular dystrophy. 1989

R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater

UI MeSH Term Description Entries
D007713 Klinefelter Syndrome 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.). 48,XXYY Syndrome,49,XXXXY Syndrome,Klinefelter Syndrome, Variants,Klinefelter's Syndrome,XXXY Males,XXY Syndrome,XXY Trisomy,Xxyy Syndrome,Klinefelter Syndromes,Klinefelter Syndromes, Variants,Klinefelters Syndrome,Syndrome, Klinefelter,Syndrome, Klinefelter's,Syndrome, Variants Klinefelter,Syndrome, XXY,Syndrome, Xxyy,Syndromes, Klinefelter,Syndromes, Variants Klinefelter,Syndromes, XXY,Syndromes, Xxyy,Trisomies, XXY,Trisomy, XXY,XXXY Male,XXY Syndromes,XXY Trisomies,Xxyy Syndromes
D008297 Male Males
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
July 2021, Neuromuscular disorders : NMD,
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
April 1979, Lancet (London, England),
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
May 1979, Lancet (London, England),
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
August 1979, Lancet (London, England),
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
October 1982, Lancet (London, England),
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
January 1976, The New England journal of medicine,
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
June 1980, Journal of medical genetics,
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
October 1965, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde,
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
December 1998, Neuromuscular disorders : NMD,
R C Hennekam, and H Veenema, and E Bakker, and F G Jennekens, and E R Te Velde, and J de Pater
May 2004, Rheumatology (Oxford, England),
Copied contents to your clipboard!