Duplication 6q21q23 in two unrelated patients.
We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart defects, and developmental delay, but each had other congenital anomalies.
Pratt
V M
VM
Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan, USA.
Roberson
J R
JR
Weiss
L
L
Van Dyke
D L
DL
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002896:Chromosomes, Human, Pair 6; D002658:Developmental Disabilities / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D009666:Nose / Q000002:abnormalities