Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion.
Paracentric inversion of chromosome 7 was found in a female infant with multiple malformations and in her phenotypically normal mother. Examination of prometaphase chromosomes revealed an additional small dark band on the inverted chromosome 7 of the girl. It was assumed that an unequal crossing over at the base of a meiotic loop of chromosome 7 had occurred in the mother and resulted in a tiny interstitial duplication in the girl.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D003434:Crossing Over, Genetic; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007231:Infant, Newborn; D008540:Meiosis; D010641:Phenotype; D012886:Skull / Q000002:abnormalities