Abstract:
:Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had microscopically visible 18q deletions. The extent and nature of the chromosome-18 deletions were studied in detail by array-based comparative genomic hybridization (arrayCGH). High-resolution chromosome-18 profiles were obtained for all patients, and a critical region of 5 Mb that was deleted in all patients with CAA could be defined on 18q22.3-18q23. Therefore, this region can be considered as a candidate region for aural atresia. The array-based high-resolution copy-number screening enabled a refined cytogenetic diagnosis in 12 patients. Our approach appeared to be applicable to the detection of genetic mosaicisms and, in particular, to a detailed delineation of ring chromosomes. This study clearly demonstrates the power of the arrayCGH technology in high-resolution molecular karyotyping. Deletion and amplification mapping can now be performed at the submicroscopic level and will allow high-throughput definition of genomic regions harboring disease genes.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Veltman JA,Jonkers Y,Nuijten I,Janssen I,van der Vliet W,Huys E,Vermeesch J,Van Buggenhout G,Fryns JP,Admiraal R,Terhal P,Lacombe D,van Kessel AG,Smeets D,Schoenmakers EF,van Ravenswaaij-Arts CMdoi
10.1086/375695subject
Has Abstractpub_date
2003-06-01 00:00:00pages
1578-84issue
6eissn
0002-9297issn
1537-6605pii
S0002-9297(07)60458-3journal_volume
72pub_type
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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更新日期:1988-12-01 00:00:00
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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更新日期:1982-09-01 00:00:00
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journal_title:American journal of human genetics
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更新日期:1990-12-01 00:00:00
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journal_title:American journal of human genetics
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doi:
更新日期:1994-10-01 00:00:00
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journal_title:American journal of human genetics
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journal_title:American journal of human genetics
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