| Автор | Hon Fong Louie Mark |
| Автор | Bayleran, Janet, K. |
| Автор | Seifer, David, B. |
| Автор | Meyers-Seifer, Cynthia, H. |
| Дата выпуска | 1996 |
| dc.description | A phenotypic female aged 15 4/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology. Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To provide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms. A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty. |
| Издатель | Sage Publications |
| Название | A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty |
| Тип | Journal Article |
| DOI | 10.1177/000992289603500202 |
| Print ISSN | 0009-9228 |
| Журнал | Clinical Pediatrics |
| Том | 35 |
| Первая страница | 62 |
| Последняя страница | 66 |
| Аффилиация | Hon Fong Louie Mark, Laboratory of Cytogenetics, FISH and Genotoxicology, Rhode Island Hospital and Brown University School of Medicine, Providence, Rhode Island |
| Аффилиация | Bayleran, Janet, K., Eastern Maine Medical Center, Bangor, Maine |
| Аффилиация | Seifer, David, B., Women and Infants Hospital and Brown University School of Medicine, Providence, Rhode Island |
| Аффилиация | Meyers-Seifer, Cynthia, H., Rhode Island Hospital and Brown University School of Medicine, Providence, Rhode Island |
| Выпуск | 2 |
| Библиографическая ссылка | Mark Hfl.Fluorescent in situ hybridization as an adjunct to conventional cytogenetics . Ann Clin Lab Sci. 1994;24:153-163. |
| Библиографическая ссылка | Mark Hfl.Recent advances in molecular cytogenetics: FISH. Rhode Island Medicine. 1994;77:375-380. |
| Библиографическая ссылка | Mark Hfl.A novel, convenient, and inexpensive approach for driving ISCN (1985) length: validation by a morphometric study of 100 karyotyped metaphase cells . Cytogenet Cell Genet. 1993;62:13-18. |
| Библиографическая ссылка | Nowell P.Phytohemagglutinin: an initiator of mitosis in cultures of normal human leukocytes . Cancer Res. 1960;20:462-466. |
| Библиографическая ссылка | Moorhead PS, Nowell PC, Mellman WJ, et al. Chromosome preparations of leukocytes cultured from human peripheral blood. Exp Cell Res.1960;20:613-616. |
| Библиографическая ссылка | Sumner AT, Evan HJ, Buckland RANew technique for distinguishing between human chromosomes. Nature.1971;232:31-32. |
| Библиографическая ссылка | Seabright M.A rapid banding technique for human chromosomes . Lancet. 1971;2:971-972. |
| Библиографическая ссылка | Harden DG, Klinger HP, eds. An InternationalSystem forHuman Cytogenetic Nomenclature (1985) . Basel: Karger; 1985. |
| Библиографическая ссылка | Mark Hfl, Grollino MG, Sulaiman RA, Lathrop JCFluorescent in situ hybridization (FISH) assessment of chromosome copy number in gestational trophoblastic disease. Ann Clin Lab Sci.1994;25:291-296. |
| Библиографическая ссылка | Nakahori Y. , Hamano K., Iwaya M., Nakagome Y. Sex identification by the polymerase chain reaction using X-Y homologous primers. Am J Med Genet. 1991;39:472-473. |
| Библиографическая ссылка | Vollrath D. , Foote S., Hilton A., et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science. 1992;258:52-59. |
| Библиографическая ссылка | Ebesnperger C., Studer R., Epplen JTSpecific amplification of the ZFY gene to screen sex in man. Hum Genet. 1989;82:289-290. |
| Библиографическая ссылка | Witt M., Erickson RPA rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction. Hum Genet. 1989;82:271-274. |
| Библиографическая ссылка | Lo Y-M. , Patel P., Wainscoat JS, et al. Prenatal sex determination by DNAamplification from maternal peripheral blood. Lancet. 1989 ;1:1363-1365. |
| Библиографическая ссылка | Troche V., Hernandez E.Neoplasia arising in dysgenetic gonads. Obstet Gynecol Surv . 1986;41 (2):74-79. |
| Библиографическая ссылка | Seifer DB, Meyers-Seifer CH, Lavy G., et al. Laparoscopic adnexectomy in a pre-pubertal Turner mosaic female with isodicentric YHum Reprod. 1991 ;6:566-567. |
| Библиографическая ссылка | Connor JM, Loughlin Sar.Molecular genetic analysis in Turner syndrome. In: Ranke MB, Rosenfeld RG, eds. Turner Syndrome: Growth Promoting Therapies. Amsterdam : Elsevier; 1988:12-15. |
| Библиографическая ссылка | Saenger P.The current status of diagnosis and therapeutic intervention in Turner syndrome . J Clin Endocrinol Metab. 1993;77:297-301. |
