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  • Title: Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation.
    Author: Summitt RL, Tharapel AT, Wilroy RS.
    Journal: Eur J Pediatr; 1977 Jul 01; 125(3):169-74. PubMed ID: 885143.
    Abstract:
    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.
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