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Z Kinderheilkd. 1975 Sep 11;120(3):223-30.

[Reciprocal translocation t (5p--;19p+) in three generations (author's transl)].

[Article in German]


A reciprocal translocation t (5p-;19p+) in 3 generations is reported. Three carriers with this translocation were healthy, the propositus with the same translocation showed cheilopalatochisis bilaterally, microphthalmus, coloboma of the retina and dysplasia of the hip joints. The cytogenetically unremarkable father of the propositus exhibited micropthalmus and coloboma of the disc and a bifid uvula. It was supposed that there is no correlation between caryotype and phenotype in the propositus. His abnormalities might be induced genetically by the father. The risk data for the descendants of carriers with balanced translocations are discussed.

[PubMed - indexed for MEDLINE]
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