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Proximal 15q variant with normal phenotype in three unrelated individuals
Author(s) -
Brookwell R.,
Veleba A.
Publication year - 1987
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.1399-0004.1987.tb02814.x
Subject(s) - phenotype , genetics , biology , chromosome , offspring , long arm , breakpoint , gene , chromosome 15 , karyotype , chromosomal translocation , pregnancy
Three individuals, ascertained for differing reasons, were found to have extra material in the proximal long arm of chromosome 15. The abnormal offspring of one of these also carried this chromosome. The extra material appears identical in all four individuals. The occurrence of this variant in patients of normal phenotype indicates that the region q11‐q13 of chromosome 15 contains material which can be duplicated with little effect, unless the gene whose disruption causes Prader‐Willi syndrome is involved at the breakpoint.