Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation.
We studied a patient with a sporadic mental retardation/multiple congenital anomalies syndrome. Chromosome analysis showed a 46,XX, inv(9)(p 11;q13) karyotype in all lymphocytes. Fibroblasts from two separate skin biopsies revealed a mosaic karyotype. Some 22.5% of fibroblasts had a karyotype like that of the lymphocytes, while 77.5% of fibroblasts had a karyotype 46,XX,inv(9)(p11;q13),der(12),t(12;?)(P13;?). The data in this case emphasize the drawbacks of confining cytogenetic analysis to lymphocytes.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005347:Fibroblasts; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008214:Lymphocytes; D009030:Mosaicism; D012867:Skin / Q000473:pathology; D014178:Translocation, Genetic