Results 101 to 110 of about 1,142,251 (222)

Unsuspected Klinefelter syndrome mosaicism presenting as osteoporosis: a case report

open access: yesArchives of Medical Science, 2006
Hypogonadism secondary to genetic disorders like Klinefelter syndrome has been described as a cause of male osteoporosis, but the diagnosis is frequently missed or delayed because the clinical features are often subtle or at times normal.
Raj Mithun   +5 more
doaj  

Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome.

open access: yes, 2018
Klinefelter syndrome is characterized by gynecomastia, hypogonadism, small testes, elevated levels of follicle-stimulating hormone and an extra X chromosome (ie, 47,XXY).1 These patients tend to have an increased risk of developing male breast cancer and
Serdaroglu, Esra   +15 more
core   +1 more source

Evaluation of organ-specific autoantibodies in a large cohort of patients with Klinefelter Syndrome

open access: yes
reservedIntroduzione La sindrome di Klinefelter (SK) è la più comune causa genetica di infertilità maschile ed è caratterizzata dalla presenza di uno o più cromosomi X sovrannumerari e da un quadro di ipogonadismo ipergonadotropo.
PAGANOTTO, CHIARA
core  

Bilateral congenital cataracts in an infant with Klinefelter syndrome

open access: yesThe Turkish Journal of Pediatrics, 2014
Congenital cataract is one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of approximately 2.5:10,000 infants under the age of 1 year.
Banu Güzel Nur   +5 more
doaj  

Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran

open access: yesEgyptian Journal of Medical Human Genetics
Background Genetic disorders are common in the Eastern Mediterranean region due to the high prevalence of consanguineous marriages. This study explores the awareness and attitudes of pregnant women in Mashhad, the biggest city in northeastern Iran ...
Nafiseh Todarbary   +4 more
doaj   +1 more source

Klinefelter Syndrome

open access: yesArchives of Pathology and Laboratory Medicine, 1999
H F, Mark, D, Alter, P, Mousseau
openaire   +2 more sources

Oral history Interview: Dorothy J. Klinefelter (797)

open access: yes, 2006
Childhood and early education in Waukesha, WI.; undergraduate studies at the University of Wisconsin; academic and social life on campus; accounting work for the Department of Gifts and Grants/Research Administration; Institute for Environmental Studies;

core  

Klinefelter syndrome - A clinical update:Klinefelter syndrome--a clinical update

open access: yes, 2013
Recently, new clinically important information regarding Klinefelter syndrome (KS) has been published. We review aspects of epidemiology, endocrinology, metabolism, body composition, and neuropsychology with reference to recent genetic ...
Bojesen, Anders   +4 more
core   +1 more source

Synchronous bilateral breast cancer in a patient with Klinefelter’s syndrome

open access: yesInternational Journal of General Medicine, 2009
H M R Hoque, A Kothari, H Hamed, I S FentimanHedley Atkins Breast Unit, Guys’ Hospital, London, UKAbstract: Synchronous bilateral male breast cancer (MBC) is rare and only a few cases have been reported in the literature.
H M R Hoque   +3 more
doaj  

A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report

open access: yesEgyptian Journal of Medical Human Genetics
Background A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related to autosomes or sex chromosomes.
Sunny Kumar Jignesh Kumar Patel   +2 more
doaj   +1 more source

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