XXXXX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）』「2016/01/12 15:30:53」(JST)
[Wiki en表示]
| 49, XXXXX |
| Classification and external resources |
| Specialty |
medical genetics |
| ICD-10 |
Q97.1 |
| DiseasesDB |
32625 |
XXXXX syndrome (also called pentasomy X or 49,XXXXX) is a type of aneuploidy (an abnormal number of chromosomes) which results in the presence of three additional X chromosomes. The condition was first described in 1963.[1] It is characterized by severe intellectual disability, short stature and abnormalities to the head and face.[1] As these features can be seen in other conditions, karyotyping must be carried out to confirm diagnosis. There have been cases of XXXXX syndrome being misdiagnosed as Down syndrome.[1][2]
It is an extremely rare condition with no more than 30 patients reported in medical literature.[3] The exact incidence is not known but it may be similar to the rate of 1 in 85,000 seen in males with 49, XXXXY syndrome.[3][4]
Contents
- 1 Signs and symptoms
- 2 Causes
- 3 See also
- 4 References
- 5 External links
Signs and symptoms
The main characteristics of XXXXX syndrome are intellectual disability, short stature and craniofacial abnormalities.[1] Other physical traits include the following:
- Small head[5]
- Ear abnormalities[5]
- Widely spaced eyes with upward slanting palpebral fissures and epicanthal folds [5]
- Short neck[5]
- Broad nose with a depressed nasal bridge[1]
- Hyperextension of the elbows[1][5]
- Dental abnormalities and cleft palate[1][5]
- Clinodactyly of the 5th finger[1][5]
- Deformities of the feet[1][5]
- Heart defects[3][5]
Causes
The aneuplody is thought to be caused by problems occurring during meiosis, either in the mother or in both the mother and father. Successive nondisjunctions have been observed in the mother of at least one patient.[1][3] The features of the syndrome likely arise due to failure of x inactivation and the presence of multiple X chromosomes from the same parent causing problems with parental imprinting. In theory, X inactivation should occur and leave only one X chromosome active in each cell. However, failure of this process has been observed in one individual studied. The reason for this is thought to be the presence of an unusually large, and imbalanced, number of X chromosomes interfering with the process.[3]
See also
- Triple X syndrome
- XXXX syndrome
References
- ^ a b c d e f g h i j Cho YG, Kim DS, Lee HS, Cho SC, Choi SI. (Sep 2004). "A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.". J Clin Pathol. 57 (9): 1004–6. doi:10.1136/jcp.2004.017475. PMC 1770429. PMID 15333671.
- ^ Zhang RH, Pan NH, Li XF, Wang XQ, Wu M. (Dec 1982). "A case of 49, XXXXX syndrome.". Chin Med J (Engl). 95 (12): 891–4. PMID 6819931.
- ^ a b c d e Moraes LM, Cardoso LC, Moura VL, Moreira MA, Menezes AN, Llerena JC Jr, Seuánez HN. (Oct 2009). "Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.". Mol Cytogenet. 2: 20. doi:10.1186/1755-8166-2-20. PMC 2766382. PMID 19811657.
- ^ Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, Clasen LS, Giedd JN. (Oct 2012). "Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders.". J Child Psychol Psychiatry. 53 (10): 1072–81. doi:10.1111/j.1469-7610.2012.02573.x. PMC 3480208. PMID 22827287.
- ^ a b c d e f g h i Monheit A, Francke U, Saunders B, Jones KL. (Oct 1980). "The penta-X syndrome.". J Med Genet. 17 (5): 392–6. doi:10.1136/jmg.17.5.392. PMC 1048607. PMID 7218280.
External links
- Tetrasomy & Pentasomy X Syndrome Information and Support
|
Chromosome abnormalities (Q90–Q99, 758)
|
|
| Autosomal |
| Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Warkany syndrome 2
- Cat eye syndrome/Trisomy 22
- Trisomy 16
|
|
| 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-
|
|
|
| X/Y linked |
| Monosomy |
|
|
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
|
|
|
| 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
|
|
| 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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|
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Index of developmental medicine
|
|
| Description |
- Embryology
- Cell lines
- Stem cells
- endoderm
- mesoderm
- ectoderm
|
|
| Disease |
- Due to toxins
- Syndromes
- Chromosomal
- Neonate
- Twins
|
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
- 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
Japanese Journal
Related Links
- Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). Epidemiology The prevalence is unknown but less than 40 cases have been described in the literature so far.
- XXXXX syndrome A chromosomal disorder that affects females only, caused by the presence of five X chromosomes rather than the normal two. It is characterized by mild to severe mental retardation in most cases, sometimes by physical abnormalities, facial features similar to those seen in Down syndrome, and sterility.
- XXXXX SYNDROME XXXXX SYNDROME By N., Pam M.S. - April 29, 2013 an uncommon chromosomal disorder wherein a female has five X chromosomes instead of the typical couple. All impacted people analyzes had cognitive ...
★リンクテーブル★
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- 英
- XXXXX syndrome
- 同
- ペンタX症候群 penta-X syndrome、5つのX症候群 pentasomy X syndrome、ケサリー-ウォリー症候群 Kesaree-Wolley syndrome
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