Premium
De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1)
Author(s) -
Franz H. B.G.,
Schliephacke M.,
Niemann G.,
Mielke G.,
Backsch C.
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02401.x
Subject(s) - gene duplication , fluorescence in situ hybridization , genetics , biology , chromosome , tandem exon duplication , karyotype , dup , comparative genomic hybridization , segmental duplication , mentally retarded , microbiology and biotechnology , gene , genome , psychology , developmental psychology , gene family
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.