Open AccessCytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
Author(s) -
Gorla Nora,
Slavutsky Irma,
Lisanti José,
Pedrazzini Estela,
Vanella Leonardo,
Larripa Irene
Publication year - 1998
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1998.t01-1-00001.x
Subject(s) - dup , biology , genetics , chromosome , gene duplication , gene
We have studied an extra structually abnormal chromosome (ESAC) in a 13 years old boy with profound mental, psychomotor and speech retardation, behavioral problems, seizures and abnormal electroencephalogram. The examination of the bisatellited ESAC with chromosome banding demonstrated that the karyotype was: 47, XY, +inv dup (15) (pter → q13::q13 → pter). The cytogenetic characterization of the inv dup (15) is reported with special emphasis on the usefulness of DA/DAPI staining when G‐banding is sequentially performed to discard possible heteromorphisms in DA/DAPI positive chromosomes, and the importance of Ag‐NOR heteromorphisms to ascertain the maternal origin of the inv dup (15). A U‐type exchange between two non‐sister chromatids is proposed as its mechanism of formation. The clinical features of the case were consistent with those previously reported in similar cases.