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Human chromosomal condition
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly. Subjects affected by the condition are almost always phenotypically male, with
Klinefelter_syndrome
Medical condition
XXXY syndrome are similar to those of Klinefelter syndrome, though the symptoms are usually more severe in 48,XXXY syndrome. Like Klinefelter syndrome, the
XXXY_syndrome
American rheumatologist and endocrinologist (1912–1990)
known for being the first to identify Klinefelter syndrome, which is named after him. Harry Fitch Klinefelter Jr. was born on March 20, 1912, in Baltimore
Harry_Klinefelter
Genetic condition in which a male has an extra Y chromosome
anomalies Klinefelter syndrome XXYY syndrome XYYY syndrome XXXYY syndrome XXYYY syndrome XYYYY syndrome Turner syndrome Trisomy X "47,XYY syndrome". Genetics
XYY_syndrome
Congenital condition where an individual with a 46,XX karyotype is male
sterile. This syndrome is diagnosed and occurs in approximately 1 in 20,000 newborn boys, making it much less common than Klinefelter syndrome. Medical treatment
XX_male_syndrome
Chromosomal disorder
pentasomy X is unclear. More common aneuploidy syndromes, such as Down syndrome and Klinefelter's syndrome, have strong relationships with maternal age
Pentasomy_X
Extra X and Y chromosome in males
signs of Klinefelter syndrome; however, chromosome testing revealed 48,XXYY instead of the 47, XXY arrangement known to cause Klinefelter syndrome. Because
XXYY_syndrome
Cat with a three-colored coat
under rare genetic conditions, e.g. in the case of chimerism or Klinefelter syndrome. The fabric called "calico" was originally from the city of Calicut
Calico_cat
Chromosomal disorder with 4 X chromosomes
Tetrasomy X, also known as 48,XXXX or Poly-X Klinefelter, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome
Tetrasomy_X
Chromosomal anomaly
researcher. The symptoms of 49,XXXXY are slightly similar to those of Klinefelter syndrome and 48,XXXY, but they are usually much more severe. Aneuploidy is
XXXXY_syndrome
Chromosome disorder in women
unaffected. These findings are common to X-chromosome polysomy syndromes, including Klinefelter syndrome. Epilepsy or electroencephalogram abnormalities may be
Trisomy_X
X chromosome monosomy
stature in Turner syndrome and its counterpoint, tall stature in sex chromosome polysomy conditions such as Klinefelter syndrome, XYY syndrome, and trisomy
Turner_syndrome
Human chromosomal condition
intellectual disability. This variation is often considered a subset of Klinefelter syndrome. If these symptoms cause physical difficulties, they may be classified
XXYYY_syndrome
Atypical congenital variations of sex characteristics
onset congenital adrenal hyperplasia (1.5 percentage points) and Klinefelter syndrome, should be counted as intersex. Some intersex people identify with
Intersex
Abnormal increase in cerebrospinal fluid in the ventricles of the brain
pituitary hormone deficiency, renal tubular acidosis, Klinefelter syndrome, fragile X syndrome, and hydrocephalus. King Bhumibol Adulyadej of Thailand
Hydrocephalus
Chromosomal disorder
ascertained due to having physical traits of Klinefelter syndrome. By that time, three men with XXYY syndrome had been reported. 49,XXXYY was one of the
XXXYY_syndrome
Failure to separate properly during cell division
monosomy (Turner syndrome, see above) can also be classified as a form of sex chromosome aneuploidy.[citation needed] Klinefelter syndrome is the most common
Nondisjunction
Medical condition
known causes of infertility is Klinefelter syndrome, which affects one in 500–1000 newborn males. Klinefelter syndrome is a chromosomal defect that occurs
Male_infertility
Genetic malformation syndrome
diagnosed in girls and in boys with two X chromosomes (Klinefelter syndrome). Those with Aicardi syndrome are in need of various specialist and habilitation
Aicardi_syndrome
Medical condition
with both AIS and certain diagnoses listed here, such as Klinefelter syndrome or Turner syndrome with mosaicism. Depending on the form of AIS suspected
Androgen insensitivity syndrome
Androgen_insensitivity_syndrome
Enlargement of the human male breast
drugs can also cause breast enlargement. Other causes may include Klinefelter syndrome, metabolic dysfunction, or a natural decline in testosterone production
Gynecomastia
Index of articles associated with the same name
Zeitler, Philip (2011). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta Paediatrica. 100 (6): 851–860. doi:10.1111/j
Sex_chromosome_anomalies
Medical conditions involving the development of the reproductive system
sex karyotypes. This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present
Disorders_of_sex_development
Neurodevelopmental disorder involving tics
include chromosomal disorders such as Down syndrome, Klinefelter syndrome, XYY syndrome and fragile X syndrome. Acquired causes of tics include drug-induced
Tourette_syndrome
Genetic disorder which disrupts normal functioning of the olfactory and pituitary glands
conditions and distinguishes them from other conditions such as Klinefelter syndrome or Turner syndrome which share some similar symptoms but have a different
Kallmann_syndrome
Syndromes
keratoderma syndrome Keutel syndrome Khyâl cap Kimmelstiel-Wilson syndrome Kindler syndrome King–Kopetzky syndrome Kleine–Levin syndrome Klinefelter syndrome Klippel–Feil
List_of_syndromes
Genetic disorder
rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European
Down_syndrome
Type of sperm production impairment
an underlying cause of SCO syndrome, such as Klinefelter syndrome, may produce other symptoms. Most cases of SCO syndrome are idiopathic, however, causes
Sertoli_cell-only_syndrome
American research foundation established in 2005
include: · 45,X (Turner syndrome): · 47,XXX (Triple X syndrome; Trisomy X) · 47,XXY (Klinefelter syndrome) · 47,XYY (Jacob syndrome) · 48,XXXY · 48,XXYY
The_Focus_Foundation
Healthcare for intersex people throughout their lives
such as having only a single X chromosome (Turner syndrome) or XXY chromosomes (Klinefelter syndrome). Up to 1.7% of the general population is estimated
Intersex_healthcare
Topics referred to by the same term
the condition of having two X chromosomes and one Y chromosome. Klinefelter syndrome in males XXY (film), a drama film about an intersex person XXY (album)
XXY
Surname list
refer to: Harry Klinefelter (1912–1990), American endocrinologist Henry G. Klinefelter (1843–1910), American politician Klinefelter syndrome Kleinfeld Kleinfeltersville
Klinefelter
Medical condition
infantile-onset cataract, and hypogonadism. Males usually develop Klinefelter syndrome while females develop agenesis of the ovaries. It has been described
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Congenital_muscular_dystrophy-infantile_cataract-hypogonadism_syndrome
Sex chromosome present in both sexes in the XY and X0 sex-determination systems
as well as in the human testis (in healthy patients). Klinefelter syndrome: Klinefelter syndrome is caused by the presence of one or more extra copies
X_chromosome
Diminished activity of the gonads
defect is inherent within the gonad: e.g. Noonan syndrome, Turner syndrome (45X,0), Klinefelter syndrome (47XXY), XY with SRY gene-immunity Secondary –
Hypogonadism
Absence of sperm in the semen
certain genetic conditions (e.g. Klinefelter syndrome), some cases of cryptorchidism or Sertoli cell-only syndrome as well as acquired conditions by
Azoospermia
Unusually small penis
such as abnormal testicular development (testicular dysgenesis), Klinefelter syndrome, Leydig cell hypoplasia, specific defects of testosterone or dihydrotestosterone
Micropenis
Inactivation of one parent's X chromosome more so than the other's
currently unknown, as no mutations in the Xist promoter were detected. Klinefelter 47,XXY and 48,XXYY patients were found to have significantly skewed X-chromosome
Skewed_X-inactivation
Study of inheritance as it occurs in human beings
chromosomes until there is only one X chromosome active. Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation
Human_genetics
Medical condition
Puberty Constitutional growth delay Hypogonadism Kallmann syndrome Turner syndrome Klinefelter syndrome Hoffman B (2016). Williams Gynecology. McGraw-Hill Education
Delayed_puberty
Александр Берёзкин), Russian intersex immigrant rights activist with Klinefelter syndrome Maddie Blaustein, American voice actor and comic creator known for
List_of_intersex_people
Congenital human disease
to) a number of other genetic disorders, including Klinefelter syndrome and Prader-Willi syndrome, as well as other multiple malformation disorders. The
Microorchidism
Autoimmune disease in which the immune system attacks healthy tissue
contribute to the onset of SLE. A study has shown an association between Klinefelter syndrome and SLE. XXY males with SLE have an abnormal X–Y translocation resulting
Lupus
Form taken by the inactive X chromosome in a female somatic cell
identifying chromosomal abnormalities, such as those seen in Turner syndrome and Klinefelter syndrome. The test became widely used in the mid-20th century and was
Barr_body
Bony part of the nose, overlying the nasal bones
alcohol syndrome. A flat nasal bridge can be a sign of Down syndrome (Trisomy 21), Fragile X syndrome, 48,XXXY variant Klinefelter syndrome, or Bartarlla-Scott
Nasal_bridge
- see Klinefelter syndrome 5p syndrome - see Cri du chat syndrome Acrania Achondroplasia Acrocephalosyndactyly Apert syndrome Crouzon syndrome Pfeiffer
List_of_congenital_disorders
American serial killer (1953–2019)
extra X chromosome, also known as 47,XXY, a specific variant of Klinefelter syndrome. This condition results in excessive estrogen production, resulting
Bobby_Joe_Long
Genetic brain disorder
survive longer. Research shows that males with Rett syndrome may result from Klinefelter's syndrome, in which the male has an XXY karyotype. Thus, a non-mutant
Rett_syndrome
Natural premature termination of pregnancy
risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases
Miscarriage
DNA molecule containing genetic material of a cell
bleeding disorder called Paris-Trousseau syndrome. Klinefelter syndrome (XXY). Men with Klinefelter syndrome are usually sterile, and tend to be taller
Chromosome
Kanto S (2007). "Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm". J. Assist. Reprod
History of in vitro fertilisation
History_of_in_vitro_fertilisation
Undifferentiated male germ cell
volume. Klinefelter syndrome Klinefelter syndrome is the most common chromosomal abnormality associated with male infertility. Klinefelter's is due to
Spermatogonium
Crease across the palm of the hand
syndrome and the genetic chromosomal abnormalities, such as Down syndrome (chromosome 21), cri du chat syndrome (chromosome 5), Klinefelter syndrome,
Single transverse palmar crease
Single_transverse_palmar_crease
Medical condition
Development (DSD)/intersex conditions – Turner's syndrome, Klinefelter's syndrome, Swyer's syndrome, XX gonadal dysgenesis, mosaicism, partial androgen
Hypergonadotropic hypogonadism
Hypergonadotropic_hypogonadism
2007 film by Lucía Puenzo
pressure can have on influencing one's personal development. Klinefelter syndrome - This syndrome doesn't represent the intersex experience shown in the film
XXY_(film)
Medical condition
Prader–Willi syndrome, Coffin–Lowry syndrome, Klinefelter syndrome, Wilson–Turner syndrome, Bardet–Biedl syndrome, Smith–Fineman–Myers syndrome (Chudley-Lowry
Börjeson–Forssman–Lehmann syndrome
Börjeson–Forssman–Lehmann_syndrome
Multi-colored fur in cats
have an extra X chromosome (XXY), a condition known in humans as Klinefelter syndrome, and their cells undergo an X-inactivation process like in females
Tortoiseshell_cat
Generalized neurodevelopmental disorder
include Down syndrome, Klinefelter syndrome, Fragile X syndrome (common among boys), neurofibromatosis, congenital hypothyroidism, Williams syndrome, phenylketonuria
Intellectual_disability
American mass murderer (1941–1991)
in men with antisocial behavior. Comparison of selected men with Klinefelter's syndrome and XYY chromosome pattern". JAMA. 214 (5): 869–78. doi:10.1001/jama
Richard_Speck
Process of development of sex differences in humans
are also sex chromosomal DSDs such as, the later mentioned, Klinefelter and Turner syndrome The following are some of the conditions associated with atypical
Sexual differentiation in humans
Sexual_differentiation_in_humans
Sex chromosome in the XY sex-determination system
extra X chromosome often develop Klinefelter syndrome, and people with an extra Y chromosome develop Jacob's Syndrome, as genes on the Y chromosome generally
Y_chromosome
DNA Kappa particle Kartagener's syndrome Karyokinesis Karyotype Kilobase Kin selection Kinetochore Klinefelter syndrome Knockout Lac operon Lagging strand
Index_of_genetics_articles
Skeletal disorder
cause secondary osteoporosis. These include Turner syndrome, Klinefelter syndrome, Kallmann syndrome, anorexia nervosa, andropause, hypothalamic amenorrhea
Osteoporosis
Medical condition
most are sacrococcygeal teratomas.[citation needed] Males with Klinefelter syndrome have a 50 times greater risk of GSTs. In these persons, GSTs usually
Germ_cell_tumor
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya
List_of_genetic_disorders
Abnormal presence of three copies of a particular chromosome
chromosomes can also occur and include: XXX (Triple X syndrome) XXY (Klinefelter syndrome) XYY (Jacobs Syndrome) Compared to trisomy of the autosomal chromosomes
Trisomy
Sudden movement or vocalization
include chromosomal disorders such as Down syndrome, Klinefelter syndrome, XYY syndrome, and fragile X syndrome. Acquired causes of tics include drug-induced
Tic
Condition present at birth regardless of cause
as limb anomalies, syndromes involving multiple systems, and Down syndrome. Recent studies have concluded that 5–9% of Down syndrome cases are due to paternal
Birth_defect
Disorders of the endocrine system
syndromes Hypogonadism (Gonadotropin deficiency) Inherited (genetic and chromosomal) disorders Kallmann syndrome Klinefelter syndrome Turner syndrome
Endocrine_disease
Cancer that originates in mammary glands
variations in the BRCA2 gene, high exposure to estrogens, or men with Klinefelter syndrome (who have two copies of the X chromosome, and naturally high estrogen
Breast_cancer
Method of determining sex
the same time, Jacob & Strong described a case of a patient with Klinefelter syndrome (XXY), which implicated the presence of a Y chromosome in development
XY_sex-determination_system
Sex-specific patterns of inheritance
Retrieved 27 March 2025. "Klinefelter syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 27 March 2025. "48,XXYY syndrome: MedlinePlus Genetics"
Sex_linkage
development (DSD) as defined by the DSD consortium, such as those with Klinefelter's syndrome. The DSD was specifically made to be as inclusive to all atypical
Definitions_of_intersex
Autoimmune disease
people with chromosomal disorders, including Turner, Down, and Klinefelter syndromes. The first gene locus associated with autoimmune thyroid disease
Hashimoto's_thyroiditis
Type of cancer of lymph nodes
[citation needed] Genetic diseases, like Klinefelter syndrome, Chédiak–Higashi syndrome, ataxia–telangiectasia syndrome.[citation needed] Autoimmune diseases
Non-Hodgkin_lymphoma
Surgical procedure
azoospermia is related to a disorder of sexual development, such as Klinefelter syndrome, TESE is not used clinically; as of 2016, this was in the research
Testicular_sperm_extraction
Chromosomal disorder
such population surveys were Klinefelter's syndrome, trisomy X, and XYY syndrome, rarer conditions such as XYYY syndrome remain little-understood. The
XYYY_syndrome
Underdevelopment of a tissue or organ
during puberty Testes in Klinefelter's syndrome Ovaries in Fanconi anemia, gonadal dysgenesis, trisomy X Thymus in DiGeorge syndrome Labia majora in popliteal
Hypoplasia
Increased distance between the inner corners of the eyelids
Down syndrome, fetal alcohol syndrome, cri du chat syndrome, Klinefelter syndrome, Turner syndrome, Ehlers–Danlos syndrome, Waardenburg syndrome often
Telecanthus
Danish painter and transgender woman (1882–1931)
already had rudimentary ovaries in her abdomen and may have had Klinefelter syndrome. Elbe met Gerda Gottlieb while they were students at the Royal Danish
Lili_Elbe
Abnormally low sperm count
chromosome Y chromosome microdeletions Abnormal set of chromosomes Klinefelter syndrome Neoplasm, e.g. seminoma Cryptorchidism Varicocele (14% in one study)
Oligospermia
One of two offspring produced by the same pregnancy
twins may express different sexual phenotypes, typically from an XXY Klinefelter syndrome zygote splitting unevenly. To quantify the occurrence of such genotypic
Twin
11th-century or 12th-century Finnish sword
corpse. Ancient DNA analysis found that the individual likely had Klinefelter syndrome, indicated through the presence of XXY chromosomes. The individual
Suontaka_sword
Tics in the absence of Tourette syndrome
include chromosomal disorders such as Down syndrome, Klinefelter syndrome, XYY syndrome and fragile X syndrome. Acquired causes of tics include drug-induced
Tourettism
Uruguayan-American stalker (1975–1996)
Journalist Paolo Pellegrini wrote that López had been diagnosed with Klinefelter syndrome. With aspirations to become an artist, López dropped out of high
Ricardo_López_(stalker)
Abnormal multiples of one or more chromosomes
mental and developmental retardation and physical malformation. Klinefelter syndrome is an example of human polysomy X with the karyotype 47, XXY. X chromosome
Polysomy
Reproductive system of the human male
Turner's syndrome - a single X chromosome is present, Klinefelter's syndrome - two X chromosomes and a Y chromosome are present, XYY syndrome and XXYY
Male_reproductive_system
Photographic display of total chromosome complement in a cell
disease in humans include Turner syndrome results from a single X chromosome (45,X or 45,X0). Klinefelter syndrome, the most common male chromosomal
Karyotype
Failure of the testicle(s) to descend into the scrotum
confirm or exclude forms of dysgenetic primary hypogonadism, such as Klinefelter syndrome or mixed gonadal dysgenesis. Hormone levels (especially gonadotropins
Cryptorchidism
Movement originating within radical feminism
genitalia or in reproductive organs", like nonclassic CAH, Turner syndrome, or Klinefelter syndrome. Citing research showing much lower prevalence, Kathleen Stock
Trans-exclusionary radical feminism
Trans-exclusionary_radical_feminism
Abnormal fusion of the radius and ulna bones of the forearm
Madelung's deformity. It is sometimes part of known genetic syndromes such as Klinefelter syndrome (48,XXXY variant), Apert, Williams, Cornelia de Lange, or
Radioulnar_synostosis
Difficulty experienced by humans during any stage of normal sexual activity
erectile dysfunction. In individuals with testicular failure, as in Klinefelter syndrome, or those who have had radiation therapy, chemotherapy, or childhood
Sexual_dysfunction
Calcified whitish structure in humans' mouths used to break down food
enlarged, and is associated with Klinefelter syndrome, Tricho-dento-osseous syndrome, Triple X syndrome, and XYY syndrome. Hypercementosis is excessive formation
Human_tooth
syndrome, Weary–Kindler syndrome) Klinefelter syndrome Klippel–Feil syndrome Lamellar ichthyosis (collodion baby) Legius syndrome (neurofibromatosis
List_of_skin_conditions
Pharaoh of Egypt from 1333 to 1324 BC
disability syndrome, Fröhlich syndrome (adiposogenital dystrophy), Klinefelter syndrome, androgen insensitivity syndrome, or aromatase excess syndrome. It has
Tutankhamun
Medical condition
loose mesenchymal stroma. It has been found in association with Klinefelter syndrome. Beresford L, Fernandez CV, Cummings E, Sanderson S, Ming-Yu W, Giacomantonio
Polyembryoma
Medical condition
Fryns–Aftimos syndrome (also known as Baraitser–Winter syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe
Fryns–Aftimos_syndrome
bodies (a male and female) or a powerful woman, was one person with Klinefelter syndrome and that "the overall context of the grave indicates that it was
Intersex_people_in_history
Ratio of lengths of fingers
androgens. A greater (more feminine) digit ratio occurs for men with Klinefelter's syndrome, who have reduced testosterone secretion throughout life compared
Digit_ratio
Protein that initiates male sex determination in therian mammals
exceptions, however, in which SRY plays a major role. Individuals with Klinefelter syndrome inherit a normal Y chromosome and multiple X chromosomes, giving
Sex-determining region Y protein
Sex-determining_region_Y_protein
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KLINEFELTER SYNDROME
KLINEFELTER SYNDROME
KLINEFELTER SYNDROME
KLINEFELTER SYNDROME
KLINEFELTER SYNDROME
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