Article
[A case of partial 6q trisomy diagnosed at birth].
Pathologica - 1 Jan 2000
Bartalena L, D'Accavio L, Pellegrinetti C, Tarantino E
Abstract excerpt
This report concerns a male newborn investigated with chromosomal analysis due to dysmorphic and malformative signs. His caryotype was 46,XY but the short arm of one 3 was not normal: parental chromosomes showed a maternal balanced translocation (3;6)(p25;q23) which had led to 6q23----6qter duplication in the patient. The phenotype was like the twenty-one cases found in the literature: it is characterized by...
Topics
- Abnormalities, Multiple
- Bone and Bones
- Chromosomes, Human, Pair 6
- Facial Bones
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Phenotype
- Syndrome
- Trisomy