XXXXY症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- (genetics) abnormal complement of three X chromosomes in a female
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/02/28 23:50:47」(JST)
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49, XXXXY syndrome |
Classification and external resources |
ICD-9 |
758.81 |
DiseasesDB |
32552 |
49, XXXXY syndrome is an extremely rare, aneuploidic sex chromosomal abnormality; its frequency is approximately 1 out of 85,000 to 100,000 males.[1][2]
Contents
- 1 Pathophysiology
- 2 Effects
- 3 See also
- 4 References
- 5 External links
Pathophysiology
As its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes on the 23rd pair, thus having 49 chromosomes rather than the normal 46. As is common with aneuploidy disorders, 49, XXXXY syndrome is often accompanied by mental retardation. It can be considered a form of Klinefelter syndrome,[3] or a variant of it.[1]
It is genetic, but not hereditary. This means that while the genes of the parents cause the syndrome, there is a small chance of more than one child having the syndrome. The probability of inheriting the disease is about 1%.[4]
The individuals with this syndrome are males, but 49, XXXXX also exists with similar characteristics as the female version.
Effects
Aneuploidy is often fatal, but in this case there is "X-inactivation" where the effect of the additional gene dosage due to the presence of extra X chromosomes is greatly reduced.[4]
Much like Down syndrome the mental effects of 49, XXXXY Syndrome vary. Impaired speech and behavioral problems are typical.[5] Those with 49, XXXXY syndrome tend to exhibit infantile secondary sex characteristics with sterility in adulthood and have some skeletal anomalies. Skeletal anomalies include:
- Genu valgum
- Pes cavus
- Fifth finger clinodactyly
The effects also include:
- Cleft palate
- Club feet
- Respiratory conditions
- Short or/and broad neck
- Low birth weight
- Hyperextensible joints
- Short stature
- Narrow shoulders
- Coarse features in older age
- Hypertelorism
- Epicanthal folds
- Prognathism
- Gynecomastia (rare)
- Muscular hypotonia
- Hypoplastic genitalia
- Cryptorchidism
- Congenital heart defects
- A very round face in infancy[4]
See also
- Aneuploidy
- Turner syndrome
- Klinefelter syndrome
- 49, XXXXX, a similar syndrome related to females
References
- ^ a b What is XXXXY syndrome? Retrieved March 26, 2008.
- ^ Visootsak J, Graham JM (2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet J Rare Dis 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147.
- ^ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders. p. 179. ISBN 0-7216-0187-1.
- ^ a b c Webspawner.com article on 49, XXXXY syndrome. Retrieved 26 March 2008.
- ^ Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM (June 2007). "Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY". Am. J. Med. Genet. A 143A (11): 1198–203. doi:10.1002/ajmg.a.31746. PMID 17497714.
External links
- [1] Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study
- 49,XXXXY Syndrome.com
- 49 XXXXY at the National Organization of Rare Diseases
Chromosome abnormalities (Q90–Q99, 758)
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Autosomal |
Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Warkany syndrome 2
- Cat eye syndrome/Trisomy 22
- Trisomy 16
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Monosomies/deletions |
- 1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome
- Wolf–Hirschhorn syndrome
- Cri du chat/Chromosome 5q deletion syndrome
- Williams syndrome
- Jacobsen syndrome
- Miller–Dieker syndrome/Smith–Magenis syndrome
- DiGeorge syndrome
- 22q11.2 distal deletion syndrome
- 22q13 deletion syndrome
- genomic imprinting
- Angelman syndrome/Prader–Willi syndrome (15)
- Distal 18q-/Proximal 18q-
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X/Y linked |
Monosomy |
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Trisomy/tetrasomy,
other karyotypes/mosaics |
- Klinefelter syndrome (47,XXY)
- 48,XXYY
- 48,XXXY
- 49,XXXYY
- 49,XXXXY
- Triple X syndrome (47,XXX)
- 48,XXXX
- 49,XXXXX
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Translocations |
Leukemia/lymphoma |
Lymphoid |
- Burkitt's lymphoma t(8 MYC;14 IGH)
- Follicular lymphoma t(14 IGH;18 BCL2)
- Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
- Anaplastic large cell lymphoma t(2 ALK;5 NPM1)
- Acute lymphoblastic leukemia
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Myeloid |
- Philadelphia chromosome t(9 ABL; 22 BCR)
- Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
- Acute promyelocytic leukemia t(15 PML,17 RARA)
- Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
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Other |
- Ewing's sarcoma t(11 FLI1; 22 EWS)
- Synovial sarcoma t(x SYT;18 SSX)
- Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
- Myxoid liposarcoma t(12 DDIT3; 16 FUS)
- Desmoplastic small round cell tumor t(11 WT1; 22 EWS)
- Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
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Other |
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome
- Ring chromosome (13; 14; 15; 20)
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Index of developmental medicine
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Description |
- Embryology
- Cell lines
- endoderm
- mesoderm
- ectoderm
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Disease |
- Due to toxins
- Syndromes
- Chromosomal
- Neonate
- Twins
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UpToDate Contents
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- 1. 性染色体異常 sex chromosome abnormalities
- 2. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
English Journal
- Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments.
- Skakkebæk A1, Wallentin M, Gravholt CH.
- Current opinion in endocrinology, diabetes, and obesity.Curr Opin Endocrinol Diabetes Obes.2015 Jun;22(3):209-16. doi: 10.1097/MED.0000000000000157.
- PURPOSE OF REVIEW: To summarize recent important studies on neuropsychology and epidemiology of Klinefelter syndrome. PubMed was searched for 'Klinefelter', 'Klinefelter's' and 'XXY' in titles and abstracts. Relevant studies were obtained and reviewed, as well as other articles selected by the autho
- PMID 25899809
- Screening for Klinefelter syndrome.
- Herlihy AS1, McLachlan RI.
- Current opinion in endocrinology, diabetes, and obesity.Curr Opin Endocrinol Diabetes Obes.2015 Jun;22(3):224-9. doi: 10.1097/MED.0000000000000154.
- PURPOSE OF REVIEW: To examine recently published evidence that may inform the need for population screening of Klinefelter syndrome; by far the most common chromosomal disorder in males, which most often escapes diagnosis throughout the lifespan.RECENT FINDINGS: Research regarding the prevalence and
- PMID 25871960
- Cell context-specific expression of primary cilia in the human testis and ciliary coordination of Hedgehog signalling in mouse Leydig cells.
- Nygaard MB1, Almstrup K2, Lindbæk L3, Christensen ST3, Svingen T4.
- Scientific reports.Sci Rep.2015 May 20;5:10364. doi: 10.1038/srep10364.
- Primary cilia are sensory organelles that coordinate numerous cellular signalling pathways during development and adulthood. Defects in ciliary assembly or function lead to a series of developmental disorders and diseases commonly referred to as ciliopathies. Still, little is known about the formati
- PMID 25992706
Japanese Journal
- Dental management of 49, XXXXY syndrome with taurodontism : A case report
- KODAIRA Hiroe,OHNO Kohachiro,IDE Masamichi,ADACHI Shiki,ASADA Yoshinobu
- Pediatric dental journal : international journal of Japanese Society of Pediatric Dentistry 19(2), 262-266, 2009-09-30
- NAID 10027485346
- Proximal tibiofibular synostosis with 49, XXXXY syndrome, a rare congenital bone anomaly
- NISHIMURA TOSHIKO,NII EIJI,URAWA MASAO,NISHIYAMA MASAKI,TAKI SACHIKO,UCHIDA ATSUMASA
- Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 13(4), 390-395, 2008-07-01
- NAID 10021944213
- Occult Submucous Cleft Palate を合併したXXXXY症候群の1例
Related Links
- Pathophysiology [edit] As its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes on the 23rd pair, thus having 49 chromosomes rather than the normal 46. As is common with aneuploidy disorders, 49, XXXXY syndrome is often accompanied by ...
- The portal for rare diseases and orphan drugs ... Summary The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.
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