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Mosaic isodicentric chromosome 18q: sixth report and review.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2006

Oudesluijs G G, Hulzebos C V, Sikkema-Raddatz B, Van Essen A J

Abstract excerpt

We describe a girl with a mosaic isodicentric chromosome 18q with discrete features of trisomy 18. She presented with prenatal growth retardation, prominent occiput, small face, high nasal bridge, large nose, thin lips, a perimembranous ventricular septal defect, and subsequent slow psychomotor development and slow growth. Amosaic isopseudodicentric chromosome 18q was detected in cultured lymphocytes: mos...

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PMID: 17375524

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