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| FURTHER CHARACTERIZATION OF 19 CASES OF REA(21Q21Q) AND DELINEATION AS ISOCHROMOSOMES OR ROBERTSONIAN TRANSLOCATIONS IN DOWN-SYNDROME |
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| Author(s): SHAFFER LG, MCCASKILL C, HALLER V, BROWN JA, JACKSONCOOK CK |
| Source: AMERICAN JOURNAL OF MEDICAL GENETICS Volume: 47 Issue: 8 Pages: 1218-1222 Published: DEC 1 1993 |
| Times Cited: 34 References: 18 |
| Abstract: We have used 9 conventional RFLPs and 6 dinucleotide repeat polymorphisms on chromosome 21q to demonstrate that 17 of 19 cases of rea(21q21q) were consistent with isochromosomes i(21q) with the remaining 2 being true Robertsonian translocations. Eight of the 17 isochromosomes were of maternal origin and 9 cases were paternally derived. The 2 Robertsonian translocations were both maternally derived. Of the 17 isochromosomes, 7 were dicentric [idic(21q)] and 10 were monocentric [i(21q)]. Both rob(21q21q) were monocentric. Our findings agree with those made in 17 previously published cases of rea(21q21q). The parental origins of the i(21q) were equally divided between maternal (n = 17) and paternal (n = 15) origins. All 4 true rob(21q21q) reported to date are of maternal origin. Collectively, it appears that most homologous rearrangements of chromosome 21 are isochromosomes and only a small proportion are consistent with true Robertsonian translocations. (C) 1993 Wiley-Liss, Inc. |
| Document Type: Article |
| Language: English |
| Reprint Address: SHAFFER, LG (reprint author), BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA |
Addresses:
1. VIRGINIA COMMONWEALTH UNIV, MED COLL VIRGINIA, DEPT HUMAN GENET, RICHMOND, VA 23298 USA
2. VIRGINIA COMMONWEALTH UNIV, MED COLL VIRGINIA, DEPT OBSTET & GYNECOL, RICHMOND, VA 23298 USA |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012 |
| Subject Category: Genetics & Heredity |
| IDS Number: MJ160 |
| ISSN: 0148-7299 |
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