Premium
AN INHERITED CHROMOSOME ABERRATION IN A GIRL WITH SIGNS OF DE LANGE SYNDROME
Author(s) -
Broholm KarlAxel,
EegOlofsson Orvar,
Hall Bertil
Publication year - 1968
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.1651-2227.1968.tb06978.x
Subject(s) - girl , chromosomal translocation , mentally retarded , medicine , partial trisomy , trisomy , chromosome , genetics , pediatrics , karyotype , biology , developmental psychology , gene , psychology
Summary A mentally retarded girl with some signs of de Lange syndrome is described. The proposita has a chromosomal aberration, inherited from her unaffected mother. One chromosome of group B and one of group D are engaged in the translocation, and the possibility of a third chromosome being involved in this rearrangement cannot be excluded. The proposita has a partial D trisomy. The variability of de Lange syndrome is discussed.