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Trisomy 5q12→q13.3 in a patient with add(13q): Characterization of an interchromosomal insertion by forward and reverse chromosome painting

✍ Scribed by Nordgren, Ann; Arver, Stefan; Kvist, Ulrik; Carter, Nigel; Blennow, Elisabeth

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 32 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<351::aid-ajmg23>3.0.co;2-h

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✦ Synopsis

We report on a patient with azoospermia, mild mental retardation, and minor physical anomalies. Chromosome analysis demonstrated the presence of additional material on the long arm of one chromosome 13. Forward chromosome painting using chromosome-specific libraries showed an insertion of material from chromosome 5. Further characterization with flow sorting of the aberrant chromosome and amplification by DOP-PCR followed by reverse chromosome painting showed specific trisomy of 5q12→q13.3. Am. J. Med. Genet. 73:351-355, 1997.

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