MCID: NMR001
MIFTS: 1

Numeric Sex Chromosome Variations

Categories: Rare diseases

Aliases & Classifications for Numeric Sex Chromosome Variations

MalaCards integrated aliases for Numeric Sex Chromosome Variations:

Name: Numeric Sex Chromosome Variations 52

Classifications:



Summaries for Numeric Sex Chromosome Variations

NIH Rare Diseases : 52 Numeric sex chromosome variations refers to differences in the number of sex chromosomes that may be present in an individual's body cells . Males typically have one X chromosome and one Y chromosome in each body cell with a total of 46 chromosomes (46, XY); females typically have two X chromosomes in each body cell (46, XX). Numeric sex chromosome variations include chromosome findings with extra or missing X or Y chromosomes. Whether there are associated signs or symptoms, as well as severity of features, can vary greatly depending on the variation present. The most common numeric sex chromosome variations include Turner syndrome (45, X); 47, XXY (which usually causes features of Klinefelter syndrome ); 47, XYY ; and 47, XXX (trisomy X). Most numeric sex chromosome variations are not inherited and occur due to a random error during the formation of reproductive cells (eggs and sperm) in a parent. In some cases, individuals have some cells with the usual 2 sex chromosomes, and some cells with extra or missing sex chromosomes; this is called chromosomal mosaicism .

MalaCards based summary : Numeric Sex Chromosome Variations

Related Diseases for Numeric Sex Chromosome Variations

Symptoms & Phenotypes for Numeric Sex Chromosome Variations

Drugs & Therapeutics for Numeric Sex Chromosome Variations

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Expression for Numeric Sex Chromosome Variations

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GO Terms for Numeric Sex Chromosome Variations

Sources for Numeric Sex Chromosome Variations

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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