TY - JOUR T1 - Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. JF - Journal of Medical Genetics JO - J Med Genet SP - 114 LP - 119 DO - 10.1136/jmg.14.2.114 VL - 14 IS - 2 AU - H J Kim AU - L Y Hsu AU - L C Goldsmith AU - L Strauss AU - K Hirschhorn Y1 - 1977/04/01 UR - http://jmg.bmj.com/content/14/2/114.abstract N2 - A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes. ER -