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Familial Premature Ovarian Failure Due to an Interstitial Deletion of the Long Arm of the X Chromosome
Abstract
We describe a family in which four women had menstrual irregularities and a partial deletion of the long arm of the X chromosome (Xq). Three of the four women had premature ovarian failure (at the ages of 24 to 37 years). Chromosome-banding studies initially suggested that a terminal portion of Xq was deleted. However, DNA-hybridization studies showed that an interstitial portion of Xq was deleted and that the affected women had a 46,XX,del(X)(pter-q21.3::q27-qter) karyotype. These findings help clarify the role of Xq in ovarian function and indicate that the accurate description of such abnormalities requires a combination of cytogenetic and DNA-hybridization analysis.
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Cited by
Ogata, T., & Matsuo, N. (1995) · Human Genetics · doi:10.1007/bf00209476 · Cited by 277
Nejmeddine, M., Negi, V. S., Mukherjee, S., Tanaka, Y., Orth, K., Taylor, G. P., & Bangham, C. R. M. (2009) · Blood · doi:10.1182/blood-2008-03-136770 · Cited by 118
Metadata
- Authors
- Krauss, C. M., Turksoy, R. N., Atkins, L., McLaughlin, C., Brown, L. G., & Page, D. C.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1987-07-16
- Volume
- 317
- Issue
- 3
- Pages
- 125-131
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2320333627
- Cited by
- 204
- References
- 0
- FWCI
- 3.74
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Familial Premature Ovarian Failure Due to an Interstitial Deletion of the Long Arm of the X Chromosome. https://app.cochat.ai/papers/10.1056/nejm198707163170301
- The paper
- Krauss, C. M., Turksoy, R. N., Atkins, L., McLaughlin, C., Brown, L. G., & Page, D. C. (1987). Familial Premature Ovarian Failure Due to an Interstitial Deletion of the Long Arm of the X Chromosome. New England Journal of Medicine. https://doi.org/10.1056/nejm198707163170301
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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