7 November 1997

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.

Questions:

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?