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Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization

✍ Scribed by Henderson, Karen G. ;Dill, Fred J. ;Wood, Stephen

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 460 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440517

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✦ Synopsis

A de novo chromosome aberration in a woman with severe mental retardation and minor anomalies has been characterized cytogenetically. The patient's karyotype was described as 46, XX, inv dup (8)(p12 + p23.1). Previous Southern blot dosage studies with the marker locus D8S7 demonstrated that the patient was monosomic for this locus, suggesting that the rearrangement generated a duplication-deficiency chromosome. We have reinvestigated this patient using fluorescent in situ hybridization with chromosome 8 cosmids and an Alu-PCR product specific for 8p. These studies have confirmed directly that the duplicated chromosome also has undergone deletion. o

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