Letter to the Editor

Reply to the Letter of Joenje et al. Titled‘‘Confounding Factors in the Diagnosis of FanconiAnaemia.’’

To the Editor:

We would like to thank Joenje et al. for their com-ments on our report of a child confidently diagnosed ashaving Baller-Gerold syndrome. In reporting this casewe wished to give further support for the idea that ifBaller-Gerold syndrome is a distinct entity it should bediagnosed on the basis of the original description andthat cases with a wider phenotype should be reviewed.As part of the case report we had to explain that twoseparate studies for chromosome breakage had yieldedfalse negative results. We are grateful to Dr. Joenjeand colleagues for confirming that false negative re-sults are not an isolated finding; in addition, they seemto support our view that previous cases of Baller-Gerold syndrome, confidently diagnosed on the basis ofa wide phenotype, should be re-evaulated. In this con-text, their comments about fibroblast studies are par-ticularly helpful.

In making the report we wished to question clinicaldiagnoses of Baller-Gerold syndrome, we made no com-ment about reviewing all cases with negative resultsfor Fanconi anaemia and specfically, we did not recom-mend that a diagnosis based on clinical symptomatol-ogy should sometimes overrule negative cytogenetictest results.

Oliver W.J. Quarrell*Edna L. MaltbyChristine J. HarrisonCentre for Human GeneticsSheffield, United KingdomDepartment of PaediatricsRotherham District General HospitalRotherham, United Kingdom

*Correspondence to: Oliver W.J. Quarrell, Centre for HumanGenetics, 117 Manchester Rd., Sheffield S10 5DN, United King-dom.

Received 10 March 1998; Accepted 14 April 1998

American Journal of Medical Genetics 79:405 (1998)

© 1998 Wiley-Liss, Inc.