Article
Unilateral microtia in an infant with trisomy 18 mosaicism.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2009
Giannatou E, Leze H, Katana A, Kolialexi A, Mavrou A, Kanavakis E, Kitsiou-Tzeli S
Abstract excerpt
Trisomy 18 is the second most frequent autosomal aneuploidy, after Down's syndrome, in humans. It causes severe congenital abnormalities and mental retardation although phenotypic features, clinical manifestations and prognosis vary occasionally. In cases oftrisomy 18 mosaicism, as in every chromosomal mosaicism, the spectrum of clinical characteristics extends from pathological to almost normal. We report a 9...
Topics
- Abnormalities, Multiple
- Chromosomes, Human, Pair 18
- Chromosomes, Human, X
- Ear, External
- Facial Asymmetry
- Facial Paralysis
- Female
- Heart Septal Defects, Atrial
- Heart Septal Defects, Ventricular
- Humans
- Hypertension, Pulmonary
- Infant
- Mosaicism
- Phenotype
- Sex Chromosome Aberrations
- Trisomy