De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22-->22.1).
We report a boy with duplication of a small segment of the short arm of chromosome 7 (46,XY, dir dup (7) (p21.2-->22.1). The boy presented with supravalvular pulmonary stenosis, atrial septum defect and mental retardation. The origin of the additional material from chromosome 7 was confirmed by fluorescence in situ hybridization. This technique in combination with the use of single-copy DNA probes may in future help to delineate the phenotype/karyotype correlation.
Franz
H B
HB
Universitäts-Frauenklinik Tübingen, Germany.
Schliephacke
M
M
Niemann
G
G
Mielke
G
G
Backsch
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D005810:Multigene Family