Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve.
We report on a newborn infant with a deletion of 6q and absent pulmonary valve. His chromosome constitution was 46,XY,del (6) (q15q21). To our knowledge this is the first case with such combination. Some of his clinical features were found in common in 2 previous 6q- cases with the same breakpoints.
Horigome
H
H
Department of Pediatrics, Ibaraki Children's Hospital, Mito-shi, Japan.
Takano
T
T
Hirano
T
T
Kajima
T
T
Ohtani
S
S
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000648:ultrastructure*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D011664:Pulmonary Valve / Q000002:abnormalities*