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Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical features
Author(s) -
Gabarrón J.,
Glover G.,
Jimenez A.,
Lamata E.
Publication year - 1985
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.1399-0004.1985.tb00418.x
Subject(s) - tetrasomy , chromosomal translocation , proband , biology , genetics , karyotype , trisomy , marker chromosome , phenotype , chromosome , microbiology and biotechnology , gene , mutation
A patient with multiple congenital anomalies suggestive of the “Cat eye” syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated with DA. The proband's karyotype is 47, XX, + psu idic(22)(Yqter→Yq12::22p13→22q11::22q11→22p13::Yq12→Yqter), t(22;Y)(p13;q12)mat., being tetrasomic for 22pter→q11, and trisomic for Yqh. Similarity between his clinical features and reported “Cat eye” cases, confirms that this region is responsible for the phenotypical expression of the syndrome.