Partial deletion 21: case report with biochemical studies and review.
An unbalanced translocation of a portion of the long arm of chromosome 21 to the short arm of chromosome 4 resulted in a partial deletion of chromosome 21 (pter----q21.05) and in the loss of the telomere of 4p. The phenotype of the child included asymmetrical facies, microcephaly, short stature, hypotonia, and psychomotor retardation associated with frequent infections. Normal SOD-1 activity in red blood cells and fibroblasts and normal cystathionine beta synthase activity in fibroblasts suggest that these gene loci are distal to 21q21.05.
Carpenter
N J
NJ
H Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, Oklahoma.
Mayes
J S
JS
Say
B
B
Wilson
D P
DP
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D002894:Chromosomes, Human, Pair 4; D003541:Cystathionine beta-Synthase / Q000378:metabolism; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D013482:Superoxide Dismutase / Q000378:metabolism; D014178:Translocation, Genetic
D013482:Superoxide Dismutase; D003541:Cystathionine beta-Synthase