Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.
An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24----q31. No other trait could plausibly be mapped. Risks of 7.9 to 31.6% for aneusomic children and of 26.3% for abortion were estimated in the present family.
D001842:Bone and Bones / Q000002:abnormalities; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005145:Face / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009006:Monosomy; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy