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A 48,XXXX female with absence of ovaries.
Am J Med Genet. 1980; 6(4):275-8.AJ

Abstract

A 16 1/2-year-old phenotypic female had primary amenorrhea, mild mental retardation, radioulnar synostosis, and other minor anomalies. Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. Laparoscopy showed a small midline uterus, and 2 fallopian tubes, and fimbriae. Neither ovaries nor gonadal streaks were seen on either side. This patient appears to represent the first instance of 48,XXXX aneuploidy with documented absence of ovaries.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7211945

Citation

Collen, R J., et al. "A 48,XXXX Female With Absence of Ovaries." American Journal of Medical Genetics, vol. 6, no. 4, 1980, pp. 275-8.
Collen RJ, Falk RE, Lippe BM, et al. A 48,XXXX female with absence of ovaries. Am J Med Genet. 1980;6(4):275-8.
Collen, R. J., Falk, R. E., Lippe, B. M., & Kaplan, S. A. (1980). A 48,XXXX female with absence of ovaries. American Journal of Medical Genetics, 6(4), 275-8.
Collen RJ, et al. A 48,XXXX Female With Absence of Ovaries. Am J Med Genet. 1980;6(4):275-8. PubMed PMID: 7211945.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A 48,XXXX female with absence of ovaries. AU - Collen,R J, AU - Falk,R E, AU - Lippe,B M, AU - Kaplan,S A, PY - 1980/1/1/pubmed PY - 1980/1/1/medline PY - 1980/1/1/entrez SP - 275 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 6 IS - 4 N2 - A 16 1/2-year-old phenotypic female had primary amenorrhea, mild mental retardation, radioulnar synostosis, and other minor anomalies. Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. Laparoscopy showed a small midline uterus, and 2 fallopian tubes, and fimbriae. Neither ovaries nor gonadal streaks were seen on either side. This patient appears to represent the first instance of 48,XXXX aneuploidy with documented absence of ovaries. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7211945/A_48XXXX_female_with_absence_of_ovaries_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1980&volume=6&issue=4&spage=275 DB - PRIME DP - Unbound Medicine ER -