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Klinefelter Syndrome

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781. Androgen production in a patient with Klinefelter's syndrome and choriocarcinoma. (PubMed)

Androgen production in a patient with Klinefelter's syndrome and choriocarcinoma. 7191751 1981 01 29 2018 11 13 0007-1447 281 6240 1980 Aug 30 British medical journal Br Med J Androgen production in a patient with Klinefelter's syndrome and choriocarcinoma. 585-6 Weetman A P AP Borysiewicz L K LK eng Case Reports Journal Article England Br Med J 0372673 0007-1447 0 Chorionic Gonadotropin AIM IM Adult Choriocarcinoma complications metabolism Chorionic Gonadotropin biosynthesis blood Humans (...) Karyotyping Klinefelter Syndrome complications metabolism Male 1980 8 30 1980 8 30 0 1 1980 8 30 0 0 ppublish 7191751 PMC1713874 J Urol. 1976 Dec;116(6):838-40 1034031 Am J Med. 1979 Mar;66(3):515-8 571203 J Clin Endocrinol Metab. 1978 Nov;47(5):1144-7 263344

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1980 British medical journal

782. Congenital hypothyroidism and Klinefelter's syndrome. (PubMed)

Congenital hypothyroidism and Klinefelter's syndrome. 7205914 1981 05 13 2018 11 13 0022-2593 17 4 1980 Aug Journal of medical genetics J. Med. Genet. Congenital hypothyroidism and Klinefelter's syndrome. 326-7 Harris F F eng Letter England J Med Genet 2985087R 0022-2593 IM Autoimmune Diseases complications Child Congenital Hypothyroidism Humans Klinefelter Syndrome complications Male Thyroiditis complications 1980 8 1 1980 8 1 0 1 1980 8 1 0 0 ppublish 7205914 PMC1048589 Arch Dis Child. 1967

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1980 Journal of Medical Genetics

783. Klinefelter's syndrome in adolescence. (PubMed)

Klinefelter's syndrome in adolescence. 7149767 1983 01 19 2018 11 13 1468-2044 57 11 1982 Nov Archives of disease in childhood Arch. Dis. Child. Klinefelter's syndrome in adolescence. 887-8 Laron Z Z Topper E E eng Letter England Arch Dis Child 0372434 0003-9888 AIM IM Adolescent Humans Klinefelter Syndrome physiopathology Male Puberty Sperm Count 1982 11 1 1982 11 1 0 1 1982 11 1 0 0 ppublish 7149767 PMC1628036 J Clin Endocrinol Metab. 1971 May;32(5):671-2 5577887 Fertil Steril. 1978 Jun;29(6

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1982 Archives of Disease in Childhood

784. Hypostatic ulcers in 47,XXY Klinefelter's syndrome (PubMed)

Hypostatic ulcers in 47,XXY Klinefelter's syndrome 6842542 1983 06 17 2018 11 13 0022-2593 20 2 1983 Apr Journal of medical genetics J. Med. Genet. Hypostatic ulcers in 47,XXY Klinefelter's syndrome. 100-1 Verp M S MS Simpson J L JL Martin A O AO eng HD02841 HD NICHD NIH HHS United States HD11021 HD NICHD NIH HHS United States HD8-2855 HD NICHD NIH HHS United States Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. England J Med Genet 2985087R (...) 0022-2593 IM Adult Aged Humans Klinefelter Syndrome complications Leg blood supply Leg Ulcer etiology genetics Male 1983 4 1 1983 4 1 0 1 1983 4 1 0 0 ppublish 6842542 PMC1049008 Acta Endocrinol (Copenh). 1967;54:Suppl 113:5+ 6071572 Hautarzt. 1969 Oct;20(10):468-9 5372166 Br Med J. 1978 Jul 8;2(6130):95-6 667581 Lancet. 1981 Dec 19-26;2(8260-61):1414 6118776 J Ment Defic Res. 1980 Mar;24(1):1-16 7381930 Angiologia. 1980 Sep-Oct;32(5):197-204 7425384 Clin Exp Dermatol. 1979 Jun;4(2):223-6 498575

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1983 Journal of Medical Genetics

785. Klinefelter's syndrome in adolescence. (PubMed)

Klinefelter's syndrome in adolescence. Twelve boys with Klinefelter's syndrome (47,XXY) identified by sex chromatin screening at birth were examined at between ages 16 and 18 years, together with 12 controls matched for social class and birth order from the same newborn population. Physical examination, psychometric assessment, personality, and degree of psychosexual development were assessed without knowledge of the karyotype. Anthropometry showed increased leg length and decreased head

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1982 Archives of Disease in Childhood

786. Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome. (PubMed)

Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome. We report a case of Klinefelter's syndrome owing to maternal meiotic error associated with triphalangeal thumb and delta phalanx bilaterally. There are no previous reports of similar cases and triphalangism with delta phalanx abnormalities of both thumbs might therefore be considered a further, but rare, manifestation of this aneuploidy.

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1991 Journal of Medical Genetics

787. Occurrence of Duchenne dystrophy in Klinefelter's syndrome. (PubMed)

Occurrence of Duchenne dystrophy in Klinefelter's syndrome. A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features.

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1993 Archives of Disease in Childhood

788. Incontinentia pigmenti in a boy with Klinefelter's syndrome. (PubMed)

Incontinentia pigmenti in a boy with Klinefelter's syndrome. A boy with the cutaneous lesions of incontinentia pigmenti is described. Chromosomal analysis revealed the 47,XXY karyotype of Klinefelter's syndrome. Since incontinentia pigmenti trait is usually lethal in males, the possibility of the second X chromosome protecting against fetal death is discussed.

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1987 Journal of Medical Genetics

789. Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. (PubMed)

Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular

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1989 Journal of Medical Genetics

790. The behavioural effects of testosterone undecanoate in adult men with Klinefelter's syndrome: a controlled study. (PubMed)

The behavioural effects of testosterone undecanoate in adult men with Klinefelter's syndrome: a controlled study. The behavioural effects of exogenous testosterone in men with marginally low circulating androgen levels were investigated. Four adult men with Klinefelter's syndrome, low normal testosterone levels and normal sexual activity and interest were given testosterone undecanoate (TU 160 mg daily by mouth; Organon International) and placebo using a double blind cross-over design. A modest

1982 Clinical endocrinology Controlled trial quality: uncertain

791. Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome. (PubMed)

Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome. A child is described with a previously unreported probable trisomy for a segment of the long arm of chromosome 17 responsible for some distinct clinical features. These include craniofacial and skin abnormalities, failure to thrive, partial malrotation of the gut, malabsorption, gastro-oesophageal reflux, neurodevelopmental delay, autonomic disturbance, and cardiac (...) and CNS abnormalities. The coexistence of Klinefelter's syndrome (47,XXY) is of minor significance in relation to this child's phenotype.

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1993 Journal of Medical Genetics

792. Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. (PubMed)

Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. A patient with Klinefelter's syndrome and diabetes mellitus was diagnosed as having myelodysplasia. Cytogenetic analysis of the peripheral blood and the bone marrow cells confirmed the presence of a constitutional 47,XXY chromosome complement. In addition, complex karyotypic abnormalities were present.

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1986 Journal of Medical Genetics

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