An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat
Open Access
- 1 December 1973
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 10 (4) , 379-384
- https://doi.org/10.1136/jmg.10.4.379
Abstract
A boy with multiple congenital anomalies was found to have a small extra chromosome. This small chromosome was interpreted as a der(22)mat because his mother was a balanced carrier with 46,XX,t(17;22) (p1;q1) chromosomes. It is hoped that with the use of the banding techniques many karyotypes will be revaluated and reinterpreted. The mother's karyotype was erroneously interpreted earlier as a 21/22 translocation.Keywords
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