Unexpected fertility and paternal UPD 22.

OBJECTIVE

To investigate and explain unexpected fertility in a man with der(22;22)(q10;10q).

DESIGN

Lymphocyte cultures, cytogenetic preparation, microsatellite genotyping analysis, affiliation test using AmpFlSTR Profiler PlusTM PCR amplication.

SETTING

Research laboratory.

PATIENT(S): Human lymphocyte cells.

INTERVENTION(S): Genetic counselling.

MAIN OUTCOME MEASURE(S): ISCN (International System for human Cytogenetic Nomenclature). International recommendations and nomenclature of molecular biology.

RESULTS

The cytogenetic analysis of the father and his son revealed the presence of a der(22;22)(q10;10q). The mother's karyotype was normal. Molecular study including microsatellite markers of chromosomes 22 and the paternity test confirmed the inheritance of this paternal rearrangement with the lack of the maternal 22 chromosome.

CONCLUSION(S): No paternally imprinted genes with major effects map to chromosome 22, although a later effect on the child's fertility is expected.