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[The 49,XYYYY syndrome: apropos of a case detected at birth and followed for 2 1/2 years].
J Genet Hum. 1984 Sep; 32(4):299-306.JG

Abstract

A male child, mentally and physically retarded shows a facial dysmorphy, fingers' abnormalities and a radio-ulnar synostosis. These features are common in the 49,XYYYY syndrom, in which external genitalia, normal at birth, remain undevelopped at the time of puberty. Four others publications through the literature report tetrasomic cells for Y chromosome, but only two of them are real 49,XYYYY (with 88% to 100% of affected cells). Our case has 96,7% tetrasomic cells.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

6491641

Citation

Plauchu, H, et al. "[The 49,XYYYY Syndrome: Apropos of a Case Detected at Birth and Followed for 2 1/2 Years]." Journal De Genetique Humaine, vol. 32, no. 4, 1984, pp. 299-306.
Plauchu H, Charrin C, Kossmann JC. [The 49,XYYYY syndrome: apropos of a case detected at birth and followed for 2 1/2 years]. J Genet Hum. 1984;32(4):299-306.
Plauchu, H., Charrin, C., & Kossmann, J. C. (1984). [The 49,XYYYY syndrome: apropos of a case detected at birth and followed for 2 1/2 years]. Journal De Genetique Humaine, 32(4), 299-306.
Plauchu H, Charrin C, Kossmann JC. [The 49,XYYYY Syndrome: Apropos of a Case Detected at Birth and Followed for 2 1/2 Years]. J Genet Hum. 1984;32(4):299-306. PubMed PMID: 6491641.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [The 49,XYYYY syndrome: apropos of a case detected at birth and followed for 2 1/2 years]. AU - Plauchu,H, AU - Charrin,C, AU - Kossmann,J C, PY - 1984/9/1/pubmed PY - 1984/9/1/medline PY - 1984/9/1/entrez SP - 299 EP - 306 JF - Journal de genetique humaine JO - J Genet Hum VL - 32 IS - 4 N2 - A male child, mentally and physically retarded shows a facial dysmorphy, fingers' abnormalities and a radio-ulnar synostosis. These features are common in the 49,XYYYY syndrom, in which external genitalia, normal at birth, remain undevelopped at the time of puberty. Four others publications through the literature report tetrasomic cells for Y chromosome, but only two of them are real 49,XYYYY (with 88% to 100% of affected cells). Our case has 96,7% tetrasomic cells. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/6491641/[The_49XYYYY_syndrome:_apropos_of_a_case_detected_at_birth_and_followed_for_2_1/2_years]_ L2 - http://www.diseaseinfosearch.org/result/47 DB - PRIME DP - Unbound Medicine ER -