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Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality
Author(s) -
Gorinati Marino,
Caufin Daniele,
Minelli Antonella,
Memo Luigi,
Gaspardo Gianfranco,
Dodero Andrea
Publication year - 1991
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.1399-0004.1991.tb02985.x
Subject(s) - dup , abnormality , gene duplication , chromosome , biology , genetics , chromosomal inversion , chromosome abnormality , karyotype , medicine , gene , psychiatry
We report a male infant with a de novo inverted duplication of bands 8p 21.1 → 22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discussed.