Duplication of distal 22q.
We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome.
Abeliovich
D
D
Cytogenetic Unit, Soroka University Hospital, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Maor
E
E
Bashan
N
N
Carmi
R
R
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics / Q000473:pathology; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D002891:Chromosomes, Human, Pair 21; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic