PT  - JOURNAL ARTICLE
AU  - Borgaonkar, Digamber S.
AU  - McKusick, Victor A.
AU  - Farber, Phillip A.
TI  - An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat
AID  - 10.1136/jmg.10.4.379
DP  - 1973 Dec 01
TA  - Journal of Medical Genetics
PG  - 379--384
VI  - 10
IP  - 4
4099  - http://jmg.bmj.com/content/10/4/379.short
4100  - http://jmg.bmj.com/content/10/4/379.full
SO  - J Med Genet1973 Dec 01; 10
AB  - 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.