Open AccessPaternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review
Author(s) -
Lakshmi Rao,
Murthy Kanakavalli,
Venkata Padmalatha,
Pratibha Nallari,
Lalji Singh
Publication year - 2010
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.66686
Subject(s) - chromosomal translocation , breakpoint , karyotype , milestone , genetics , fluorescence in situ hybridization , genetic counseling , chromosome , chromosomal rearrangement , medicine , biology , gene , history , archaeology
The common cause of mental impairment and the wide range of physical abnormalities is balanced chromosome rearrangement. As such, it is difficult to interpret, posing as a diagnostic challenge in human development. We present a unique familial case report with the paternally inherited autosomal-balanced reciprocal translocation involving chromosomal regions 8q and 18q. The etiology of the translocation, i.e. 46,XX,t(8;18)(q22.1;q22) was detected by conventional high-resolution Giemsa-Trypsin-Giemsa-banding and fluorescence in situ hybridization techniques. The father was found to be the carrier of the chromosome defect and also the same was observed in the first female child referred with a history of delayed milestone development. However, the second female child showed normal 46, XX karyotype. This is the first report of reciprocal translocation involving 8q and 18q associated with the delayed milestone development. The reason likely may be due to the rearrangement of genetic material at these breakpoints having a crucial relationship and thus manifesting developmental delay in the progeny. Accordingly, this paper also shows genetic counseling discussion for the cause.