About: sex chromosome aberration

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

abnormal number or structure of the sex chromosomes

Attributes	Values
rdf:type	Item
description	abnormal number or structure of the sex chromosomes (en)
exact match	wds:Q54971630-65E418C2-1EAF-4104-9640-232AC6EBCD8E
exact match	http://www.orpha.net/ORDO/Orphanet_98155
Mondo ID	wds:Q54971630-5FD48B06-A85A-4D6A-9106-41BCE63FDBFD
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0020058
Mondo ID	MONDO_0020058
rdfs:label	aberacija spolnih kromosomov (sl) anomalia dels cromosomes sexuals (ca) anomalie des chromosomes sexuels (fr) anomalio de sekskromosomo (eo) kjønnskromosomavvik (nn) sex chromosome aberration (en)
skos:prefLabel	aberacija spolnih kromosomov (sl) anomalia dels cromosomes sexuals (ca) anomalie des chromosomes sexuels (fr) anomalio de sekskromosomo (eo) kjønnskromosomavvik (nn) sex chromosome aberration (en)
name	aberacija spolnih kromosomov (sl) anomalia dels cromosomes sexuals (ca) anomalie des chromosomes sexuels (fr) anomalio de sekskromosomo (eo) kjønnskromosomavvik (nn) sex chromosome aberration (en)
has effect	wds:Q54971630-6aea9570-43d7-2fdf-c423-5e97f03d4c02
has effect	sex chromosome disorder
instance of	wds:Q54971630-6D252638-9F8E-496B-A841-928289CF722A wds:Q54971630-7FC239B9-1426-45F2-A0CA-39F0C21D02D3
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q54971630-c578e0a9-431d-f4ac-7b80-2db51327ccaf
subclass of	chromosome abnormality
Orphanet ID	wds:Q54971630-B5B74FC8-72B6-4E33-BE7A-3C99FE6EC546
ICD-9-CM	wds:Q54971630-54B13AE1-9832-45F5-8E0F-FC53152421DA wds:Q54971630-C986ADF4-55ED-42A3-AC36-8556BB1846FC
Orphanet ID	98155
ICD-9-CM	758.81 758.8
skos:altLabel	Sex-chromosome anomaly (en) gonosome anomaly (en) kjønnskromosomaberrasjon (nn) sex chromosome aberrations (en)
UMLS CUI	wds:Q54971630-812B5F80-78C3-4D8A-9274-0F0E7A43D926 wds:Q54971630-D219238A-82FD-476B-8BC4-7ACDCDC86C7D
MeSH descriptor ID	wds:Q54971630-52EA0666-4529-434F-ABC8-DDCB3091A7AA
MeSH tree code	wds:Q54971630-36346afe-4e01-5769-4bbc-6f44321351d4 wds:Q54971630-B72639BD-613B-4FB7-9631-83E9F932D954
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D012729
MeSH tree code	http://id.nlm.nih.gov/mesh/C23.550.210.815 http://id.nlm.nih.gov/mesh/G05.365.590.175.815
UMLS CUI	C0036868 C0949683
MeSH descriptor ID	D012729
MeSH tree code	C23.550.210.815 G05.365.590.175.815
is owl:sameAs of	sex chromosome aberration
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q54971630
is cites work of	The Infant with Ambiguous Genitalia
is cites work of	wds:Q70407309-480AA2C7-A1B8-4BA4-9E2B-6CDE2DB4E68C
is subclass of of	gonosome number anomaly Gonosome structural anomaly
is subclass of of	wds:Q55789091-A11FD3F1-ABFD-4820-A585-26363A14D936 wds:Q55789092-4CC44B2A-A85C-425C-B0CA-71F51E68A7FD
is main subject of	Height and Antisocial Behavior in XY and XYY Boys Distal Xq duplication and functional Xq disomy. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. The incidence and etiology of sex chromosome abnormalities in man Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions Klinefelter syndrome and other sex chromosomal aneuploidies Further information on the identity of 47,XYY males A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features Growth and development of children with X and Y chromosome aneuploidy: a prospective study The 48,XXYY syndrome The 48, XXYY syndrome Clonal Origin of the Philadelphia Chromosome and Chronic Myeloid Leukaemia: Evidence from a Sex Chromosome Mosaic True hermaphroditism and "XX boy" in a sibship Normal meiosis in two 47,XYY men The 47,XYY male: A review A common fragile site at Xq27: theoretical and practical implications A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice A double aneuploid mosaic: trisomy 13 and XXY Analytic review: nature and origin of males with XX sex chromosomes Chromosome survey of total population of mentally subnormal in North-East of Scotland X/XYq - mosaicism and mixed gonadal dysgenesis Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations The triplo-X female: an appraisal based on a study of 12 cases and a review of the literature A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9 Structural abnormalities of the sex chromosomes Dicentric Y chromosome in a male pseudohermaphrodite 45,X/46,X, dic (Y)/47, XYY A New Variant of Klinefelter's Syndrome with a Presumptive Deleted Y Chromosome Translocation of the Y chromosome to an autosome in a boy with hypogonadism (author's transl) 45,X/ 46,XX/ 46,XY Mosaic with female phenotype Minute Y chromosome Partial XYY syndrome Structural abnormalities of the Y chromosome. Observations in ten cases Ring Y chromosome: 45,X/46,Xr(Y) chromosome mosaicism in a phenotypically normal male with azoospermia Y to X translocation in man H-Y antigen and the origin of XY female wood lemmings (Myopus schisticolor)

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