Article
Opposite imbalances of distal 14q in two unrelated patients.
Annales de genetique - 1 Jan 1992
Rivera H, Ramirez-Dueñas M L, Figuera L E, Gonzalez-Montes R M, Vasquez A I
Abstract excerpt
Two unrelated children were found to have de novo opposite imbalances for distal 14q. One had a 46,XY, del(14)(q24q32) karyotype and exhibited, like three other patients with similar deletions, a distinctive facial appearance including round face, frontal hypertrichosis, thick eyebrows, horizontal narrow palpebral fissures, a short bulbous nose with a flat root, and mild micrognathia. The other had a 46,XX, dir...
Topics
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 14
- Face
- Female
- Humans
- Infant
- Infant, Newborn
- Karyotyping
- Male
- Multigene Family