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Molecular cytogenetic characterization and origin of two de novo duplication 9p cases

✍ Scribed by Tsezou, Aspasia; Kitsiou, Sofia; Galla, Angeliki; Petersen, Michael B.; Karadima, Georgia; Syrrou, Maria; Sahl�n, Sigrid; Blennow, Elisabeth

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 26 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000313)91:2<102::aid-ajmg4>3.0.co;2-5

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✦ Synopsis

We report on two additional cases with duplication of 9p, minor with facial anomalies and developmental delay. Using fluorescence in situ hybridization and single-copy probes, we showed that the first case was a direct duplication, whereas the second case was inverted. The extent of the direct duplication was defined as 9p12 → p24 by microdissection and microcloning of the aberrant chromosome and subsequent chromosomespecific comparative genomic hybridization. DNA polymorphism analysis with eight microsatellite markers revealed that the origin of the dup(9p) was maternal in the first case, whereas it was paternal in the second. Am.

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