[Partial trisomy 1 (1q31-41) caused by intrachromosomal insertion in 1p31.3 in a newborn infant and a sister of the mother].
Insertions of chromosomal material which are due to 3 breaks are rare events. In this observation a segment of the long arm of chromosome 1q31-41 was shifted to 1p31.3 on the short arm and after recombination had caused trisomy of this segment in 2 cases. Main phenotypical feature is colobomatous microphthalmia. Other traits in which both patients differ considerably are non specific. Any correlation between duplications of the long arm of chromosome 1 and phenotypical expression has not yet been recognized.
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg.
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D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002878:Chromosomes, Human, Pair 1; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008850:Microphthalmos / Q000235:genetics*; D011995:Recombination, Genetic; D014314:Trisomy
Partielle Trisomie 1 (1q31-41) infolge intrachromosomaler Insertion in 1p31.3 bei einem Neugeborenen und der Schwester der Mutter.