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  • Title: [Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p].
    Author: Schürmann M, Wethling H, Niemeyer ML, Schwinger E.
    Journal: Klin Padiatr; 1987; 199(1):27-31. PubMed ID: 2435950.
    Abstract:
    An unbalanced structural chromosome aberration was found in a 6-year-old girl. Mother and maternal grandmother were shown to be carriers of a complex balanced translocation involving chromosomes 1, 5 and 15 and are of normal phenotype. The unbalanced status in the proband was defined as a partial trisomy 1p21-1p31. Partial trisomies of this chromosomal segment have rarely been reported. Unexpectedly, the consequences on the child's phenotype are only minor. Main features are: facial dysmorphy, small stature and syndactyly of 4th and 5th toes; mental and statomotoric development are not grossly affected.
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