ドゥ・ラ・シャペル症候群
WordNet
- water chestnut whose spiny fruit has two rather than 4 prongs (同)ling ko, Trapa bicornis
- elongated marine food fish of Greenland and northern Europe; often salted and dried (同)Molva molva
- American hakes
- a legal document signed and sealed and delivered to effect a transfer of property and to show the legal right to possess it; "he signed the deed"; "he kept the title to his car in the glove compartment" (同)deed of conveyance, title
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- go `ding dong, like a bell (同)dong, dingdong
- a ringing sound
- the syllable naming the sixth (submediant) note of a major or minor scale in solmization (同)lah
PrepTutorEJDIC
- タラ科の食用魚
- ギョリュウモドキ(エリカに似た観賞用植物)
- 『行為』,行動 / (正式の)捺印証書,権利書 / …'を'証書を作製して譲渡する
- (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
- 〈鐘など〉‘を'ガンガン鳴らす / 〈鐘などが〉ガンガン鳴る / (鐘の)ガンガン鳴る音
- ラ(全音階の第6音)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/06/28 00:40:06」(JST)
[Wiki en表示]
| XX male syndrome |
| Classification and external resources |
| ICD-10 |
(Q98.3) |
| OMIM |
278850 |
XX male syndrome (also called de la Chapelle syndrome, for a researcher who characterized it in 1972[1]) is a rare sex chromosomal disorder. Usually it is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X from the mother during fertilization, the result is an XX male.
This syndrome occurs in approximately four or five in 100,000 individuals, making it less common than Klinefelter syndrome.[2][3]
Contents
- 1 Presentation
- 2 Clinical diagnosis
- 3 Pathophysiology
- 4 See also
- 5 External links
- 6 References
Presentation
Symptoms usually include small testes and subjects are invariably sterile. Individuals with this condition sometimes have feminine characteristics, with varying degrees of gynecomastia but with no intra-abdominal Müllerian tissue.[4] According to research at the University of Oklahoma health science centers, most XX males are not stereotypically feminine and are typical boys and men[citation needed] although other reports suggest that facial hair growth is usually poor and libido is diminished, with notable exceptions.[4][5]
Clinical diagnosis
- Standard XX karyotype in two tissues (with at least one, or both, containing the male SRY gene)
- Male external genitalia, sometimes showing hypospadias
- Two testes which may or may not have descended the inguinal canal. Most XX males have descended testes.
- Absence of Müllerian tissue
Pathophysiology
Males typically have one X chromosome and one Y chromosome in each diploid cell of their bodies. Females typically have two X chromosomes. XX males have two X chromosomes, with one of them containing genetic material from the Y chromosome, making them phenotypically male; they are genetically female but otherwise appear to be male.
See also
- Karyotype
- Swyer syndrome
- X chromosome, for other diseases related to the X chromosome.
- Androgen Insensitivity Syndrome
- XY female syndrome
External links
- GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development
- GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
References
- ^ de la Chapelle A (1972). "Analytic review: nature and origin of males with XX sex chromosomes". Am J Hum Genet 24 (1): 71–105. PMC 1762158. PMID 4622299.
- ^ Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E (September 2007). "Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients". J. Clin. Endocrinol. Metab. 92 (9): 3458–65. doi:10.1210/jc.2007-0447. PMID 17579198.
- ^ http://www.healthline.com/galecontent/xx-male-syndrome Healthline.com: XX Male Syndrome
- ^ a b Lisker R, Flores F, Cobo A, Rojas FG (December 1970). "A case of XX male syndrome". J. Med. Genet. 7 (4): 394–398. doi:10.1136/jmg.7.4.394. PMC 1468937. PMID 5501706.
- ^ Abusheikha N, Lass A, Brinsden P (2001). "Case Report: XX male without SRY gene and with infertility". Human Reproduction 16 (4): 717–718. doi:10.1093/humrep/16.4.717. PMID 11278224.
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Pathology: chromosome abnormalities (Q90–Q99, 758)
|
|
| Autosomal |
| Trisomies |
- Down syndrome
- Edwards syndrome
- Patau syndrome
- Trisomy 9
- Warkany syndrome 2
- Cat eye syndrome
- 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)
|
|
|
| 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)
|
|
|
| Other |
- Fragile X syndrome
- Uniparental disomy
- XX male syndrome
- Ring chromosome (13; 14; 15; 20)
|
|
UpToDate Contents
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English Journal
- Biallelic MUTYH mutations can mimic Lynch syndrome.
- Morak M1, Heidenreich B2, Keller G3, Hampel H4, Laner A5, de la Chapelle A4, Holinski-Feder E1.
- European journal of human genetics : EJHG.Eur J Hum Genet.2014 Feb 12. doi: 10.1038/ejhg.2014.15. [Epub ahead of print]
- The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), germline mutations in the DNA mismatch repair (MMR) genes, tumours with high microsatellite instability (MSI-H) and loss of MMR protein expression. However, in ∼10-15% of clinically suspected LS case
- PMID 24518836
- Prostate cancer incidence in males with Lynch syndrome.
- Haraldsdottir S1, Hampel H2, Wei L3, Wu C1, Frankel W4, Bekaii-Saab T1, de la Chapelle A5, Goldberg RM1.
- Genetics in medicine : official journal of the American College of Medical Genetics.Genet Med.2014 Jan 16. doi: 10.1038/gim.2013.193. [Epub ahead of print]
- Purpose:An increased risk of prostate cancer is currently not considered a part of the Lynch syndrome spectrum. The purpose of this study was to retrospectively examine prostate cancer incidence in the Lynch syndrome cohort at the Ohio State University in comparison with that in the general populati
- PMID 24434690
- How do we approach the goal of identifying everybody with Lynch syndrome?
- Hampel H1, de la Chapelle A.
- Familial cancer.Fam Cancer.2013 Jun;12(2):313-7. doi: 10.1007/s10689-013-9611-5.
- PMID 23568035
Japanese Journal
- A Deletion in Chromosome 22 Can Cause DiGeorge syndrome
Related Links
- De la Chapelle syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Hypospadias Undescended testes Small testicles Breast ...
- 1. Presse Med. 2001 Mar 3;30(8):369-72. [De La Chapelle syndrome]. [Article in French] Dupuy O, Palou M, Mayaudon H, Sarret D, Bordier L, Garcin JM, Bauduceau B. Service d'Endocrinologie, Hôpital d'Instruction des Armées ...
Related Pictures
★リンクテーブル★
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- 英
- de la Chapelle syndrome
参考
- 1. [A rare lethal bone dysplasia with recessive autosomic transmission].
- De la Chapelle A, Maroteaux P, Havu N, Granroth G.
- Archives françaises de pédiatrie.Arch Fr Pediatr.1972 Aug-Sep;29(7):759-70.
- PMID 4644462
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