Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5.
We report on a 3-generation family with an interstitial deletion of the short arm of chromosome 5. Varied manifestations were found among the affected individuals including microcephaly, hypertonia, and micrognathia; mental retardation was common to all affected individuals. High resolution chromosome analysis was interpreted as del(5) (pter- > p14.3::p13.3- > qter). Molecular comparison of the deletion in this family with individuals with other 5p deletions suggests that the clinical findings are due specifically to the chromosomal material deleted from 5p13.
Keppen
L D
LD
Department of Pediatrics, University of South Dakota School of Medicine, Sioux Falls.
Gollin
S M
SM
Edwards
D
D
Sawyer
J
J
Wilson
W
W
Overhauser
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D015139:Blotting, Southern; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D002895:Chromosomes, Human, Pair 5; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D006822:Hybrid Cells; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009122:Muscle Hypertonia / Q000235:genetics; D014314:Trisomy
D004247:DNA