Distal monosomy of the long arm of chromosome 6 (6q25----6qter) inherited by maternal translocation t(6q;17q)
Two half-sisters with distal monosomy of the long arm of chromosome 6 (q25----qter) inherited by maternal translocation t(6q;17q) were investigated. The clinical manifestations of these patients are compared with eight cases reported in the literature for further characterization of the 6q-syndrome. The cytogenetic diagnosis of alterations involving small chromosome fragments and the different origins of this type of deletion are also discussed.
Departamento de Genetica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brasil.
M H
MH
Oliveira-Duarte
L R
LR
Martelli-Soares
T
T
Sarquis-Cintra
M L
ML
Machado
M P
MP
Lison
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000648:ultrastructure*; D002896:Chromosomes, Human, Pair 6 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D009006:Monosomy; D012640:Seizures / Q000235:genetics; D014178:Translocation, Genetic