Premium
NORMAL AND ABNORMAL SIBS WITH A FAMILIAL CHROMOSOMAL TRANSLOCATION
Author(s) -
PITT DAVID,
FERGUSON JEAN,
BAIKIE A. G.
Publication year - 1964
Publication title -
australasian annals of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0571-9283
DOI - 10.1111/imj.1964.13.2.178
Subject(s) - chromosomal translocation , karyotype , abnormality , genetics , biology , chromosome , chromosomal abnormality , centromere , chromosomal rearrangement , medicine , gene , psychiatry
Summary A case is described of a moderately retarded boy with cerebral atrophy of unknown cause, inherited epicanthi and other malformations, with 45 chromosomes seen in preparations of both skin and blood. The karyotype showed only four large acrocentric chromosomes in group D (13–15), but there was also present an additional medium metacentric chromosome comparable in size with those in group C (6–12). This would appear to be a translocation between two chromosomes of group D, with deletion of chromosome material from the short arms. The patient's mother and brother, who are both phenotypically normal, except for the presence of similar epicanthi, also show the same autosomal anomaly and translocation. The original assumption that the patient's chromosomal anomaly was solely responsible for his disordered development was therefore disproved, and the cause of his condition remains obscure. The possible relationship between the familial chromosomal abnormality and the phenotypic abnormalities in the index case is discussed. These findings indicate that in the absence of regular association in a sufficient number of cases, abnormal clinical findings should not be too readily attributed to any particular chromosomal anomaly found.