A possible clinical implication of homozygous inversions of 9qh regions with Cornelia de Lange syndrome (CLS).
Several investigators have attempted to correlate chromosomal abnormalities with Cornelia de Lange Syndrome (CLS), but none of them have been conclusive. The homozygous inversion of 9qh found in the present case has not been found previously. It remains to be clarified whether the presence of this finding in CLS was simply a coincidence or whether homozygosity for such inversions may result in CLS.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities; D008297:Male; D009666:Nose / Q000002:abnormalities; D013577:Syndrome