Article
Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype.
American journal of medical genetics - 15 Aug 1994
Mewar R, Harrison W, Weaver D D, Palmer C, Davee M A, Overhauser J
Abstract excerpt
We report on an infant who presented at birth with some characteristics of trisomy 18 syndrome, including low birth weight, facial abnormalities, overlapping fingers, and congenital heart defects. On chromosome analysis, no additional chromosome 18 was observed and both chromosome 18 homologues a...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 18
- DNA Probes
- Diagnosis, Differential
- Face
- Fatal Outcome
- Fingers
- Heart Defects, Congenital
- Humans
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Infant, Small for Gestational Age
- Intellectual Disability
- Male
- Multigene Family