A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.
A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus.
Park
J P
JP
Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, N. H. 03756.
McDermet
M K
MK
Moeschler
J B
JB
Wurster-Hill
D H
DH
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002897:Chromosomes, Human, Pair 7; D003616:Dandy-Walker Syndrome; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D010641:Phenotype; D014178:Translocation, Genetic