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The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation
Author(s) -
HAIN D.,
LEVERSHA M.,
CAMPBELL N.,
DANIEL A.,
BARR P. A.,
ROGERS J. G.
Publication year - 1980
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1980.tb01296.x
Subject(s) - chromosomal translocation , medicine , chromosome , genetic counseling , genetics , karyotype , gene , biology
Two unrelated children were karyotyped because of abnormal features and poor performance. Both children were shown to have 45 chromosomes with a 1:15 unbalanced translocation derived from mothers who were balanced carriers. Despite the apparently identical translocations the dysmorphic features in these children were different. The discovery of an unbalanced translocation gives a firm basis for discussing prognosis and planning appropriate management. Parental chromosome analysis is necessary for genetic counselling in this situation.