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


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


METHODS
Research laboratory.


METHODS
Human lymphocyte cells.


METHODS
Genetic counselling.


METHODS
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.


CONCLUSIONS
No paternally imprinted genes with major effects map to chromosome 22, although a later effect on the child's fertility is expected.
Département de génétique médicale, Institut National d'Hygiène, Rabat, Morocco. ouldim@yahoo.fr
Karim
K
Ouldim
Aziza
A
Sbiti
Abdelbafid
A
Natiq
Fatiha
F
El-Kerch
Souad
S
Cherkaoui
Abdelaziz
A
Sefiani
D002892:Chromosomes, Human, Pair 22; D005298:Fertility / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D024182:Uniparental Disomy / Q000235:genetics* / Q000503:physiopathology