Article
Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly.
American journal of medical genetics - 16 Jan 1995
Kulharya A S, Maberry M, Kukolich M K, Day D W, Schneider N R, Wilson G N, Tonk V
Abstract excerpt
We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalie...
Topics
- Abnormalities, Multiple
- Bone and Bones
- Chromosome Deletion
- Chromosomes, Human, Pair 4
- Facial Bones
- Female
- Humans
- Infant
- Male
- Phenotype
- Syndrome