Dup(3)(p2 → pter) in two families, including one infant with cyclopia

G. Gimelli, C. Cuoco, M. Lituania, M. Cordone, M. Aricò, E. Bianchi, P. Maraschio, O. Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

We report on 2 unrelated cases of duplication of distal 3p due to balanced maternal translocation t(3;6)(p23;q27) and t(2;3)(p25;p23) respectively. One family was ascertained through the unbalanced offspring and the other through echographic examination of the balanced carrier mother. These cases confirm that dup(3)(p2 → pter) results in a characteristic syndrome with distinctive facial appearance. In family 2 inspection of a photograph of a deceased sib was sufficient to conclude that he was affected. The patient in family 2 had cyclopia. Since holoprosencephaly was also reported by Martin and Steinberg, we conclude that this anomaly appears to be a sign of the syndrome. The duplication usually derives from a maternal balanced translocation, in most cases from adjacent-1 segregation. However, family 2 was ascertained through a balanced female carrier who inherited the translocation from the father. We have noted that the second chromosome (which varies without apparent preferences) involved in these translocations is broken consistently at a distal band.

Original languageEnglish
Pages (from-to)341-348
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume20
Issue number2
DOIs
Publication statusPublished - 1985

ASJC Scopus subject areas

  • Genetics(clinical)

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