DISTAL 15Q-TRISOMY

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  • 1 January 1977
    • journal article
    • research article
    • Vol. 20  (3) , 214-216
Abstract
A patient with distal 15q trisomy resulting from malsegregation of a maternal t(13;15)(q33;q21.2) showed the following symptoms: micro-dolichocephaly, palpebral fissures slightly oriented downwards and outwards, a large nose, pronounced micrognathia, prominent anthelax, ligamental abnormalities, osseous malformations evocative of diastrophic dwarfism, severe congenital heart defect and profound encephalopathy. He died at 5 mo. of age. This observation is compared with 2 others from the literature.

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