7 November 1997
Patient with 46, XY, t(11,19)
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.
- Is the translocation balanced and just a red herring in a boy affected
with a Mendelian disorder?
- Does anyone have similar patient phenotypically or similar translocation?
- Are the findings related to the translocation which has been reported-no
cytogenetically detectable deletion?
- Does anyone have FISH probes for regions involved?
- Anyone interested in doing molecular investigation for deletion?
Joanne Sutherland, MSc
Genetic Counsellor, Eye Genetics Team
Solutions By Sequence Co-Ordinator
Retinoblastoma Mutation Analysis
Dept. Ophthalmology-Main Floor Elm Wing
Hospital for Sick Children
555 University Avenue >Toronto, Ontario