Article
Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype.
Clinical genetics - 1 Nov 1993
Khalifa M M, MacLeod P M, Duncan A M
Abstract excerpt
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.
Topics
- Abnormalities, Multiple
- Chromosome Deletion
- Chromosomes, Human, Pair 17
- Cryptorchidism
- Face
- Hearing Loss, Bilateral
- Hernia, Inguinal
- Hip Dislocation, Congenital
- Humans
- Infant, Newborn
- Intellectual Disability
- Karyotyping
- Male
- Microcephaly
- Phenotype
- Skull
- Thumb
- Vision, Low