Reference : Precocious puberty associated with partial trisomy 18q and monosomy 11q
Scientific journals : Article
Life sciences : Biotechnology
Life sciences : Genetics & genetic processes
Life sciences : Microbiology
Precocious puberty associated with partial trisomy 18q and monosomy 11q
Mutesa, Léon [> > > >]
Hellin, A. C. [> > > >]
Jamar, Michelle [Centre Hospitalier Universitaire de Liège - CHU > > HOPITAL DE JOUR ONCOLOGIQUE SART TILMAN >]
Pierquin, Geneviève mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Bours, Vincent mailto [Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique générale et humaine]
Verloes, Alain [Université de Liège - ULiège > > Génétique générale et humaine >]
Genetic Counseling (Geneva, Switzerland)
Medecine Et Hygiene
Yes (verified by ORBi)
Geneva 4
[en] central precocious puberty ; partial trisomy 18q ; monosomy 11q ; maternal translocation
[en] We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,der(11)t(11;18)(q24;q13). To the best of our knowledge, this is the first report of precocious puberty associated with either dup(18q) or del(11q) syndromes.

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