Tetrasomy X

Also Known As:

48 XXXX; 48 XXXX syndrome

Networked: 12 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Tetrasomy X: 12
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Sex Chromosome Aberrations: 73
      - Tetrasomy X: 12
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Tetrasomy X: 12
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Tetrasomy X: 12
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Tetrasomy X: 12
Genetic Phenomena
- Genetic Variation
  - Mutation
    - Chromosome Aberrations: 11361
      - Sex Chromosome Aberrations: 73
        Tetrasomy X: 12
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Tetrasomy X: 12
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Tetrasomy X: 12

Related Diseases

1.	Disorders of Excessive Somnolence (Hypersomnia)
2.	Triple X syndrome
3.	Osteoporosis
4.	Down Syndrome (Down's Syndrome)

Experts

1.	Carvalho, Karen S: 1 article (05/2018)
2.	Hasbani, Daphne M: 1 article (05/2018)
3.	Jayaraman, Dilip: 1 article (05/2018)
4.	Altundağ, Engin: 1 article (12/2014)
5.	Kara, Cengiz: 1 article (12/2014)
6.	Oğur, Gönül: 1 article (12/2014)
7.	Yılmaz, Ayşegül: 1 article (12/2014)
8.	Üstyol, Ala: 1 article (12/2014)
9.	Demidova, I A: 1 article (09/2006)
10.	Iourov, I Y: 1 article (09/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Tetrasomy X:

1.	DNA (Deoxyribonucleic Acid)IBA 04/01/1996 - "Global hypomethylation of the late-replicating X chromosomal DNA was observed in three cases of fibroblast primary cultures that were characterized by numerical and structural aberrations of the X chromosomes [46,X,ter rea(X;X), 48,XXXX and 46, X,t(X;15)]. " 04/25/1990 - "The construction of a yeast artificial chromosome (YAC) primary gridded library of 35,000 clones from human lymphoblastoid (48,XXXX) cell line DNA is described. " 02/01/1993 - "DNA of chorionic villi from fetuses with karyotypes of 46,XY; 45,XO; 47,XXX; 69,XXX and 48,XXXX were extracted, slot blotted and hybridized to the following radioactive probes: beta 0.9, FVIII, pY3.4 and pBLUR. " 09/01/1987 - "We used phenol-enhanced reassociation of 48,XXXX DNA in competition with excess XL-45 DNA to generate a library of cloned DNA enriched for sequences that might be deleted in XL-45. "
2.	Complement System Proteins (Complement)IBA 06/01/1989 - "A two year five months old girl is presented with chromosomic complement 47,XXX/48,XXXX/49,XXXXX and presence of 2, 3 and 4 corpuscles in the nuclei of epithelial cells of oral mucosa. " 09/01/2006 - "The application of interphase fluorescence in situ hybridization (FISH) using chromosome enumeration and site-specific DNA probes showed trisomy X in 92 nuclei (23 %), tetrasomy X in 100 nuclei (25 %), pentasomy of chromosome X in 40 nuclei (10 %), XXY in 36 nuclei (9 %), XXXXXXYY in 12 nuclei (3 %), XXXXXYYYYY in 8 nuclei (2 %), trisomy 21 and female chromosome complement in 40 nuclei (10 %), normal female chromosome complement in 72 nuclei (18 %) out of 400 nuclei scored. "
3.	Phenol (Carbolic Acid)FDA Link 09/01/1987 - "We used phenol-enhanced reassociation of 48,XXXX DNA in competition with excess XL-45 DNA to generate a library of cloned DNA enriched for sequences that might be deleted in XL-45. "
4.	Complementary DNA (cDNA)IBA 03/01/1992 - "The YACs were isolated from a human 48,XXXX YAC library using the DMD cDNA and brain promoter fragments as hybridization probes. "
5.	DystrophinIBA 08/01/1991 - "The precision of the technique was established by examining the relative gene dosage of the X-linked dystrophin gene in human genomic DNAs from a male, a normal female, a 47,XXX female, and a 48,XXXX cell line. "
6.	DNA ProbesIBA 09/01/2006 - "The application of interphase fluorescence in situ hybridization (FISH) using chromosome enumeration and site-specific DNA probes showed trisomy X in 92 nuclei (23 %), tetrasomy X in 100 nuclei (25 %), pentasomy of chromosome X in 40 nuclei (10 %), XXY in 36 nuclei (9 %), XXXXXXYY in 12 nuclei (3 %), XXXXXYYYYY in 8 nuclei (2 %), trisomy 21 and female chromosome complement in 40 nuclei (10 %), normal female chromosome complement in 72 nuclei (18 %) out of 400 nuclei scored. "
7.	GonadotropinsIBA 01/01/1980 - "Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. "
8.	Estrogens (Estrogen)FDA Link 01/01/1980 - "Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. "
9.	Bromodeoxyuridine (BrdU)IBA 07/15/1974 - "H3-deoxycytidine incorporation into X-chromosomes differentially condensed under 5-bromodeoxyuridine treatment in cases of 49,XXXXY, 48,XXXX, 47,XXX, 46,X,i(Xq), and 45,X-46,X,i(Xq)."

Therapies and Procedures

1.	Therapeutics 05/01/2018 - "A case report of hypersomnia in tetrasomy X improved with medical therapy." 05/01/2018 - "We report on one patient with tetrasomy X and hypersomnia successfully treated with psychostimulant therapy. "
2.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 12/01/2014 - "Patients with tetrasomy X syndrome should be screened for ovarian insufficiency during early adolescence because hormone replacement therapy may be required for prevention of osteoporosis. "