Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13
Andel, J. F. ; Catsman-Berrevoets, C. E. ; Halley, D. J. J. ; Swaay, E. ; Niermeijer, M. F. ; Oostra, B. A.
Springer
Published 1991
Springer
Published 1991
| ISSN: |
1432-1203
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
Summary DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a micro deletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.
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| Type of Medium: |
Electronic Resource
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| URL: |