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. 1984;68(1):77-86.
doi: 10.1007/BF00293878.

Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

M Moller, D García-Cruz, H Rivera, J Sánchez-Corona, J M Cantú

Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

M Moller et al. Hum Genet. 1984.

Abstract

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.

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