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| DETECTION OF DELETIONS AND CRYPTIC TRANSLOCATIONS IN MILLER-DIEKER SYNDROME BY INSITU HYBRIDIZATION |
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| Author(s): KUWANO A, LEDBETTER SA, DOBYNS WB, EMANUEL BS, LEDBETTER DH |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 49 Issue: 4 Pages: 707-714 Published: OCT 1991 |
| Times Cited: 138 References: 17 |
| Abstract: Fluorescence in situ hybridization (FISH) using two cosmid probes (41A and P13) from the Miller-Dieker syndrome (MDS) critical region in 17p13.3 was performed in a blinded comparison of three MDS patients with submicroscopic deletions and in four normal relatives used as controls. The controls showed both chromosome 17 homologues labeled in 85%-95% of cells, while each patient showed only one homologue labeled in 75%-80% of cells. Two MDS patients with cryptic translocations were also studied. In one case, a patient and her mother had the same der(17) (p +), but the reciprocal product of the translocation could not be identified in the mother by G-banding (i.e., it was a "half-cryptic" translocation). FISH revealed a 3q;17p translocation. The other case involved a patient with apparently normal karyotype. Because a large molecular deletion was found, a translocation involving two G-negative telomeres (i.e., a "full-cryptic" translocation) was postulated. FISH studies on her father and normal brother showed an 8q;17p translocation. These studies demonstrate that in situ hybridization is an efficient method for deletion detection in Miller-Dieker syndrome. More important, parental studies by FISH on patients demonstrating molecular deletions and a normal karyotype may identify cryptic translocation events, which cannot be detected by other molecular genetic strategies. Similar in situ strategies for deletion detection can be developed for other microdeletion syndromes, such as Prader-Willi/Angelman syndrome or DiGeorge syndrome. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, INST MOLEC GENET, 1 BAYLOR PLAZA, HOUSTON, TX 77030 USA
2. CHILDRENS HOSP, DIV HUMAN GENET & MOLEC BIOL, PHILADELPHIA, PA 19104 USA
3. INDIANA UNIV, DEPT NEUROL, INDIANAPOLIS, IN 46204 USA
4. INDIANA UNIV, DEPT MOLEC GENET, INDIANAPOLIS, IN 46204 USA |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: GG665 |
| ISSN: 0002-9297 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |