Karyotype instability with multiple 7/14 and 7/7 rearrangements.
Chromosomes were studied in a mentally retarded boy with microcephaly, growth retardation, facial erythema, café-au-lait spots, and IgA deficiency. In the lymphocytes there was a remarkable tendency to exchange parts of the chromosomes Nos. 7 and 14, the translocations almost exclusively taking place in bands 7p13, 7q32 and 14q11. Seven different types of rearrangements between Nos. 7 and 14, and some other chromosomal aberrations were found. No abnormalities could be detected in the bone marrow. The patient somewhat resembles those affected with ataxia-telangiectasia or with Bloom's syndrome, but on clinical and cytogenetic grounds these disorders could be excluded. 7/14 Translocations similar to those found in our patient's lymphocytes have been reported to occur very rarely in the lymphocyte cultures of individuals with apparently normal chromosome constitution. A relationship between these phenomena may exist.
D002648:Child; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D004406:Dysgammaglobulinemia / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007070:Immunoglobulin A; D008607:Intellectual Disability / Q000235:genetics; D007911:Lentigo; D008297:Male; D008831:Microcephaly / Q000235:genetics; D013577:Syndrome
D007070:Immunoglobulin A