Article
Further delineation of 7p trisomy. Case report and review of literature.
Annales de genetique - 1 Jan 1996
Pallotta R, Dalprà L, Fusilli P, Zuffardi O
Abstract excerpt
The authors report on the 7th case of "de novo" 7p trisomy [46,XY,dup (7) (p15-pter)], followed during 6-and-a-half years. Through literature review, examination of pictures and dermatoglyphics, they try to contribute to the further definition of this multiple congenital anomaly syndrome. This en...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 7
- Chromosomes, Human, Pair 8
- Craniofacial Abnormalities
- Cryptorchidism
- Cutis Laxa
- Dermatoglyphics
- False Negative Reactions
- Follow-Up Studies
- Humans
- Infant, Newborn
- Intellectual Disability
- Karyotyping
- Male
- Phenotype
- Translocation, Genetic