Premium
A RE‐INVESTIGATION OF AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME
Author(s) -
EEGOLOFSSON O.,
LIEDGREN S.
Publication year - 1981
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1981.tb05746.x
Subject(s) - chromosomal translocation , chromosome , karyotype , genetics , marker chromosome , chromosome aberration , girl , medicine , biology , gene
. Eeg‐Olofsson, O. and Liedgren, S. (Departments of Paediatrics and Gynaecology and Obstetrics, University Hospital, Linköping, Sweden). A re‐investigation of an inherited chromosome aberration in a girl with signs of de Lange syndrome. Acta Paediatr Scand, 70:575,.–An earlier report in this journal (1968) dealt with an inherited chromosome aberration in a girl with signs of de Lange syndrome and her family. A translocation between a 13–15 and a 4–5 chromosome, with the unbalanced proposita having an additional segment from one end of a 13–15 chromosome was found. A 6–12 chromosome involvement could not be excluded. The mother and two phenotypically normal sisters had a balanced karyotype. With modern technique a more complex translocation has been found. A part of one chromosome no. 5 is translocated to one chromosome no. 9, a fragment of this chromosome is probably translocated to one chromosome no. 13, and a part of this one is translocated to the first‐mentioned chromosome no. 5. The mother and sisters have this balanced chromosomal aberration. The proposita in addition has two normal chromosomes no. 13. Thus she has a partial trisomy of chromosome no. 13. Reinvestigation of older reports on chromosomal aberrations in risk families in order to achieve a more reliable diagnosis in phenotypically normal members of the same family is emphasized.