Article
[11q distal trisomy due to a familial 11;18 translocation].
Boletin medico del Hospital Infantil de Mexico - 1 Nov 1990
Menéndez I, Rivera H, Morales E, Juan J, Jiménez M
Abstract excerpt
A seven-month-old boy with a distal trisomy 11q resulting from a maternal t(11;18)(q23;p11) is described. His main clinical features were microbrachycephaly, long philtrum, retracted lower lip, short neck, cardiac septal defect, and psychomotor retardation. It is concluded that the phenotype of the trisomy 11q is independent of the size of the duplication whenever the segment 11q23----qter is involved.
Topics
- Abnormalities, Multiple
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 18
- Heart Defects, Congenital
- Humans
- Infant
- Intellectual Disability
- Karyotyping
- Male
- Microcephaly
- Phenotype