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49,XXXXX syndrome.
Ann Genet. 1982; 25(3):145-8.AG

Abstract

A 3-year-old 49,XXXXX girl, the seventeenth case in medical literature, is described. A typical characteristic of the syndrome is the round face with epicanthal folds, hypertelorism, broad flat nasal bridge, upward slant of the palpebral fissures, enlarged round mandible and pointed chin, somewhat resembling trisomy 21. The apparent stronger selection against 49,XXXXX aneuploidy versus the 49,XXXXY suggested by the much higher frequency of the latter is probably due to the more severe congenital cardiopathy which may be related to the number of inactivated X chromosomes.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6982661

Citation

Fragoso, R, et al. "49,XXXXX Syndrome." Annales De Genetique, vol. 25, no. 3, 1982, pp. 145-8.
Fragoso R, Hernandez A, Plascencia ML, et al. 49,XXXXX syndrome. Ann Genet. 1982;25(3):145-8.
Fragoso, R., Hernandez, A., Plascencia, M. L., Nazara, Z., Martinez y Martinez, R., & Cantu, J. M. (1982). 49,XXXXX syndrome. Annales De Genetique, 25(3), 145-8.
Fragoso R, et al. 49,XXXXX Syndrome. Ann Genet. 1982;25(3):145-8. PubMed PMID: 6982661.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 49,XXXXX syndrome. AU - Fragoso,R, AU - Hernandez,A, AU - Plascencia,M L, AU - Nazara,Z, AU - Martinez y Martinez,R, AU - Cantu,J M, PY - 1982/1/1/pubmed PY - 1982/1/1/medline PY - 1982/1/1/entrez SP - 145 EP - 8 JF - Annales de genetique JO - Ann Genet VL - 25 IS - 3 N2 - A 3-year-old 49,XXXXX girl, the seventeenth case in medical literature, is described. A typical characteristic of the syndrome is the round face with epicanthal folds, hypertelorism, broad flat nasal bridge, upward slant of the palpebral fissures, enlarged round mandible and pointed chin, somewhat resembling trisomy 21. The apparent stronger selection against 49,XXXXX aneuploidy versus the 49,XXXXY suggested by the much higher frequency of the latter is probably due to the more severe congenital cardiopathy which may be related to the number of inactivated X chromosomes. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/6982661/49XXXXX_syndrome_ L2 - http://www.diseaseinfosearch.org/result/47 DB - PRIME DP - Unbound Medicine ER -