Article
Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.
Human genetics - 1 Oct 1998
Courtens W, Grossman D, Van Roy N, Messiaen L, Vamos E, Toppet V, Haumont D, Streydio C, Jauch A, Vermeesch J R, Speleman F
Abstract excerpt
We report on newborn monozygotic twins with a Noonan-like phenotype, and multiple congenital anomalies due to a monocentric recombinant chromosome 18. The mother carried a paracentric inversion of the long arm of chromosome 18, inv(18)(q21.1q22.3). Cytogenetic, fluorescent in situ hybridization,...
Topics
- Chromosome Deletion
- Chromosome Inversion
- Chromosomes, Human, Pair 18
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Male
- Microsatellite Repeats
- Mothers
- Noonan Syndrome
- Phenotype