Premium
De novo 3q/7q translocation and associated interstitial 7q35 deletion
Author(s) -
Fryns J. P.,
Kleczkowska A.,
Berghe H.
Publication year - 1988
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.1399-0004.1988.tb04267.x
Subject(s) - chromosomal translocation , mentally retarded , chromatin , genetics , biology , chromosomal rearrangement , congenital malformations , karyotype , psychology , chromosome , developmental psychology , gene , pregnancy
In the present report we describe a severely mentally retarded and dysmorphic female child with a de novo 3q/7q reciprocal translocation and loss of band 7q35. This finding supports the hyothesis that the occurrence of mental retardation and/or congenital malformations in de novo autosomal reciprocal translocation may be due to the loss of a small amount of chromatin material during this chromosomal rearrangement.