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Case Reports
. 1978 Oct;15(5):382-7.
doi: 10.1136/jmg.15.5.382.

Segregation of an insertional chromosome rearrangement in 3 generations

K E Toomey, T Mohandas, R S Sparkes, M M Kaback, D L Rimoin
Case Reports

Segregation of an insertional chromosome rearrangement in 3 generations

K E Toomey et al. J Med Genet. 1978 Oct.

Abstract

The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.

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References

    1. Birth Defects Orig Artic Ser. 1976;12(7):131-4 - PubMed
    1. N Engl J Med. 1976 Nov 11;295(20):1120-3 - PubMed
    1. Lancet. 1972 Sep 30;2(7779):712-3 - PubMed
    1. J Med Genet. 1974 Mar;11(1):50-64 - PubMed
    1. J Med Genet. 1974 Dec;11(4):353-66 - PubMed

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