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.
Oliveira-Duarte
M H
MH
Departamento de Genetica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brasil.
Martelli-Soares
L R
LR
Sarquis-Cintra
T
T
Machado
M L
ML
Lison
M P
MP
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