Klinefelter's syndrome


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Related to Klinefelter's syndrome: Androgen insensitivity syndrome, XYY syndrome
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Noun1.Klinefelter's syndrome - syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male
syndrome - a pattern of symptoms indicative of some disease
References in periodicals archive ?
Some of the chromosomal anomalies like Turner syndrome are known to have short stature while some others like Klinefelter's syndrome have tall stature.
High normal testosterone levels in infants with non-mosaic Klinefelter's syndrome. Eur J Endocrinol 2007;157:345-350.
The X aneuploidy could indirectly alter gene expression genome wide through epigenetic effects; for example, the presence of an extra heterochromatic chromosome might act as a sink for specific protein complexes [17] and may be responsible for the phenotypic features of Klinefelter's syndrome [18].
The sex chromosome DSD also include 45X/46XY mixed gonadal dysgenesis, Turner's syndrome (TS) and Klinefelter's syndrome (KS)5-7.
This difference in BMD is somewhat counterintuitive as many people with primary hypogonadism such as Klinefelter's syndrome would be hypogonadal even during pubertal bone development which can cause an overall decrease in the development of peak bone mass [105], and pituitary dysfunction commonly presents after puberty is completed.
The second case of de novo intracranial germinoma association with Klinefelter's syndrome. Surg Neurol 2006;66:332.
Fetal chromosome testing confirmed trisomy 13 (Patau syndrome) in one of the cases of holoprosencephaly and a 47,XXY karyotype (Klinefelter's syndrome) in one of the cases referred for ventriculomegaly.
Charli has Klinefelter's syndrome - also known as intersex - meaning she has an extra female chromosome.
Klinefelter's syndrome, a condition that occurs in men who have an extra X chromosome, includes gynecomastia and hypogonadism.
Beginning at the "dawn of molecular biology" in the 1930s-40s, selected vignettes give the background behind the discovery of DNA tumor viruses, advances in understanding cell cycle regulation, repair and replication mechanisms, and apoptosis, and unexpected insights from such places as Klinefelter's syndrome and Drosophila mutations.
It also features an option for X and Y chromosome analysis, giving information on sex chromosome conditions, such as Monosomy X or Klinefelter's syndrome, and fetal sex.
Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes.