Biomaterial Database

[Klinefelter's syndrome with XXXXY karyotype in a 3-year-old boy]. 1966

E Ferrante, and P Vignetti, and L Bruni, and O Malaguzzi Valeri

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
D008141	Lordosis	The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals (
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D008831	Microcephaly	A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)	Microlissencephaly,Severe Congenital Microcephaly,Congenital Microcephalies, Severe,Congenital Microcephaly, Severe,Microcephalies,Microcephalies, Severe Congenital,Microcephaly, Severe Congenital,Microlissencephalies,Severe Congenital Microcephalies
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012729	Sex Chromosome Aberrations	Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.	Sex Chromosome Abnormalities,Abnormalities, Sex Chromosome,Chromosome Abnormalities, Sex,Aberration, Sex Chromosome,Aberrations, Sex Chromosome,Abnormality, Sex Chromosome,Chromosome Aberration, Sex,Chromosome Aberrations, Sex,Chromosome Abnormality, Sex,Sex Chromosome Aberration,Sex Chromosome Abnormality
D013285	Strabismus	Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)	Concomitant Strabismus,Dissociated Horizontal Deviation,Dissociated Vertical Deviation,Heterophoria,Heterotropias,Hypertropia,Non-Concomitant Strabismus,Nonconcomitant Strabismus,Phorias,Squint,Strabismus, Comitant,Strabismus, Noncomitant,Convergent Comitant Strabismus,Mechanical Strabismus,Comitant Strabismus,Comitant Strabismus, Convergent,Deviation, Dissociated Horizontal,Dissociated Horizontal Deviations,Dissociated Vertical Deviations,Heterophorias,Heterotropia,Horizontal Deviation, Dissociated,Hypertropias,Non Concomitant Strabismus,Noncomitant Strabismus,Phoria,Strabismus, Concomitant,Strabismus, Convergent Comitant,Strabismus, Mechanical,Strabismus, Non-Concomitant,Strabismus, Nonconcomitant
D017880	Limb Deformities, Congenital	Congenital structural deformities of the upper and lower extremities collectively or unspecified.	Congenital Limb Deformities,Congenital Limb Deformity,Deformities, Congenital Limb,Deformity, Congenital Limb,Limb Deformity, Congenital