Case Reports
doi: 10.1007/BF00480593.
Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation
- PMID: 885143
- DOI: 10.1007/BF00480593
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Case Reports
Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation
Eur J Pediatr.
.
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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