Article
Clinical diagnosis of partial duplication 7q.
American journal of medical genetics - 1 Oct 1990
Bartsch O, Kalbe U, Ngo T K, Lettau R, Schwinger E
Abstract excerpt
We report on two sibs with partial dup (7q), a retarded 9-month-old boy and an aborted fetus of 17 weeks' gestational age. Besides minor anomalies, the boy had frontal bossing, macrocephaly with hydrocephaly, a high forehead, and a large fontanelle. GTG banded chromosomes showed a 14p+ abnormalit...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 7
- Face
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Phenotype
- Translocation, Genetic