MCID: 48X001
MIFTS: 28

48, Xxxx

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 48, Xxxx

MalaCards integrated aliases for 48, Xxxx:

Name: 48, Xxxx 74
48,xxxx Syndrome 52 58
Tetrasomy X 52 58
Quadruple X 52 58
Tetra X 52 58
48 Xxxx Syndrome 52
Xxxx Syndrome 74
48 Xxxx 52

Characteristics:

Orphanet epidemiological data:

58
tetrasomy x
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C536502
ICD10 via Orphanet 33 Q97.1
UMLS via Orphanet 72 C0265496
Orphanet 58 ORPHA9

Summaries for 48, Xxxx

NIH Rare Diseases : 52 Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells , so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay ; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis ; heart defects; hip dysplasia ; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.

MalaCards based summary : 48, Xxxx, also known as 48,xxxx syndrome, is related to 48,xyyy and alacrima, achalasia, and mental retardation syndrome. Affiliated tissues include heart, pituitary and bone, and related phenotypes are hypertelorism and muscular hypotonia

Wikipedia : 74 Tetrasomy X (also called XXXX syndrome, quadruple X, or 48,XXXX) is an extremely rare chromosomal... more...

Related Diseases for 48, Xxxx

Graphical network of the top 20 diseases related to 48, Xxxx:



Diseases related to 48, Xxxx

Symptoms & Phenotypes for 48, Xxxx

Human phenotypes related to 48, Xxxx:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
2 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
5 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
8 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
9 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
10 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
11 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
12 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
13 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
14 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
15 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
16 premature ovarian insufficiency 31 occasional (7.5%) HP:0008209
17 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
18 malformation of the heart and great vessels 58 Occasional (29-5%)
19 precocious menopause 58 Occasional (29-5%)

Drugs & Therapeutics for 48, Xxxx

Search Clinical Trials , NIH Clinical Center for 48, Xxxx

Genetic Tests for 48, Xxxx

Anatomical Context for 48, Xxxx

MalaCards organs/tissues related to 48, Xxxx:

40
Heart, Pituitary, Bone, Brain, Ovary

Publications for 48, Xxxx

Articles related to 48, Xxxx:

(show top 50) (show all 71)
# Title Authors PMID Year
1
The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study. 61
31085277 2019
2
A case report of hypersomnia in tetrasomy X improved with medical therapy. 61
29744081 2018
3
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. 61
28500832 2017
4
Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX. 61
26086740 2015
5
Tetrasomy X in a Child with Upper Limb Deformity. 61
26061938 2015
6
Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies. 61
26571231 2015
7
Premature ovarian failure due to tetrasomy X in an adolescent girl. 61
24221609 2014
8
Female polysomy-X and systemic lupus erythematosus. 61
24012046 2014
9
A Sri Lankan child with 48,XXXX syndrome. 61
23494840 2014
10
Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature. 61
24502039 2013
11
Unusual brain changes in tetrasomy x chromosomal anomaly. 61
23275857 2012
12
Tetrasomy and pentasomy of the X chromosome. 61
21590264 2011
13
Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure. 61
21654007 2011
14
The importance of systematic genetic approach to familial schizophrenia cases and discussion of cryptic mosaic X chromosome aneuploidies in schizophrenia pathogenesis. 61
24917321 2010
15
[X tetrasomy (48,XXXX karyotype) in a girl with altered behavior]. 61
23445996 2010
16
A review of trisomy X (47,XXX). 61
20459843 2010
17
Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. 61
20425825 2010
18
The developmental spectrum of proximal radioulnar synostosis. 61
19669136 2010
19
Chimerism and multiple numerical chromosome imbalances in a spontaneously aborted fetus. 61
17385415 2006
20
Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature. 61
12199336 2002
21
47,XXX male: A clinical and molecular study. 61
11170081 2001
22
Heat denaturation of soy glycinin: influence of pH and ionic strength on molecular structure. 61
10888487 2000
23
Rare sex chromosome aneuploidies in humans: report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes. 61
10377019 1999
24
Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. 61
9833066 1998
25
DNA methylation of the X chromosomes of the human female: an in situ semi-quantitative analysis. 61
8625741 1996
26
Sex chromosome tetrasomy and pentasomy. 61
7567329 1995
27
Prenatal quantitation of number of X-chromosomes by slot blot hybridization and autoradiography. 61
8094681 1993
28
Pentasomy X mosaic in two adult sisters with diabetes mellitus. 61
1421717 1992
29
A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene. 61
1559698 1992
30
47,XXX t(7;11)(p11.2;q11.2) and 48,XXXX t(7;11)(p11.2;q11.2) in the same patient. 61
1536188 1992
31
[The cytogenetics of premature ovarian failure]. 61
1342464 1992
32
Precise gene dosage determination by polymerase chain reaction: theory, methodology, and statistical approach. 61
1791851 1991
33
A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. 61
2186372 1990
34
Systemic lupus erythematosus and tetrasomy-X. 61
2600948 1989
35
[Penta-X syndrome. Report of a case with 47,XXX/48,XXXX/49,XXXXX mosaicism]. 61
2665783 1989
36
Somatic and intellectual development in a patient with 47,XX,psu dic(X)(p11.2) chromosome constitution. 61
2773999 1989
37
Taurodontism in females with extra X chromosomes. 61
2794003 1989
38
Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes. 61
3228133 1988
39
[X maternal mosaicism and genetic counseling]. 61
3221209 1988
40
Schizophrenia in a 48,XXXX child. 61
3182603 1988
41
[The 48,XXXX syndrome: study of psychomotor development from birth to 11 years of age and review of the literature]. 61
3041908 1988
42
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 61
3476958 1987
43
47,XXX/48,XXXX in a retarded three year old girl with multiple somatic anomalies. 61
4035270 1985
44
[48,XXXX syndrome in a 1-year-old girl]. 61
6811843 1982
45
The association of serum IgM and IgG levels with the number of X chromosomes in patients with abnormal number of X chromosomes. 61
6809836 1982
46
Cytogenetic studies in a selected group of mentally retarded children. 61
6456981 1981
47
[Rare chromosome abnormality: tetrasomy X (48XXXX)]. 61
7225182 1980
48
A 48,XXXX female with absence of ovaries. 61
7211945 1980
49
[Syndrome 48,XXXX]. 61
539881 1979
50
The 48, XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy. 61
560352 1977

Variations for 48, Xxxx

Expression for 48, Xxxx

Search GEO for disease gene expression data for 48, Xxxx.

Pathways for 48, Xxxx

GO Terms for 48, Xxxx

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