HUM-MOLGEN DIAGnostics/Clinical Research

7 November 1997
Patient with 46, XY, t(11,19) (p11.2;p13.3) translocation

Our patient has 46, XY, t(11,19) (p11.2;p13.3) translocation--globally developmentally delayed, digitalized thumbs, brachycephaly, small downturned mouth, mild midface hypoplasia, bilateral extra skin fold medially under lower eyelid. He was small for gest. age, supraventricular tachycardia, hyperbilirubinemia, hypoglycemia--all resolved. Relatively normal retinal exam; however, he shows some diffuse pigmentary mottling which might represent an underlying retinal dystrophy.


  1. Is the translocation balanced and just a red herring in a boy affected with a Mendelian disorder?
  2. Does anyone have similar patient phenotypically or similar translocation?
  3. Are the findings related to the translocation which has been reported-no cytogenetically detectable deletion?
  4. Does anyone have FISH probes for regions involved?
  5. Anyone interested in doing molecular investigation for deletion?

Joanne Sutherland, MSc
Genetic Counsellor, Eye Genetics Team
Solutions By Sequence Co-Ordinator
Retinoblastoma Mutation Analysis
Eye Clinic
Dept. Ophthalmology-Main Floor Elm Wing
Hospital for Sick Children
555 University Avenue >Toronto, Ontario
M5G 1X8
Phone: 416-813-7822
FAX: 416-813-6261