Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

Figure 1

The results of Karyotype and FISH analysis. (A) Pedigree of the family with mental retardation, language delay and microcephaly. (B) Standard karyotype analysis revealed a reciprocal translocation between chromosomes 1 and 12, designated t(1, 12)(p32.1; q21.2) in the proband (II-1). (C) FISH analysis showed the chromosome 1 breakpoint may be located within the genomic sequences of the BAC clone RP11-57F6, as the fluorescent signal could be seen on normal chromosome 1, derivative chromosome 1, and derivative chromosome 12. (D) FISH analysis showed that the chromosome 12 breakpoint may be located within the genomic sequences of the BAC clone RP11-259D24, as the fluorescent signal could be seen on normal chromosome 12, derivative chromosome 1, and derivative chromosome 12.

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us