دورية أكاديمية
Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation.
| العنوان: | Characterization of a chromosome 8-derived minute marker chromosome using microdissection and FISH in a boy with growth retardation. |
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| المؤلفون: | Engelen JJ; Research Institute Growth and Development, Department of Clinical Genetics, University Maastricht, The Netherlands. john.engelen@gen.unimaas.nl, Schrander-Stumpel CT, Theunissen PM, Vaes-Peeters G, Albrechts JC, Hamers AJ |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2003 Apr 30; Vol. 118A (3), pp. 274-8. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Chromosomes, Human, Pair 8* , Genetic Markers*, Growth Disorders/*genetics, Child ; Chromosome Aberrations ; Chromosome Banding ; Developmental Disabilities/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male |
| مستخلص: | In a 9-year-old boy referred because of growth retardation, chromosome analysis showed the presence of a minute marker chromosome in 75% of the metaphases examined. The application of microdissection in combination with fluorescence in situ hybridization demonstrated that the marker was derived from the centromere region of chromosome 8, the karyotype being: mos 47,XY,+mar.ish der(8)(D8Z1+)[75]/46,XY[25]. The clinical and cytogenetical findings are compared with cases previously reported in the literature. (Copyright 2003 Wiley-Liss, Inc.) |
| المشرفين على المادة: | 0 (Genetic Markers) |
| تواريخ الأحداث: | Date Created: 20030404 Date Completed: 20040106 Latest Revision: 20200930 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1002/ajmg.a.10267 |
| PMID: | 12673659 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4825 |
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| DOI: | 10.1002/ajmg.a.10267 |