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2007:
Mutesa L; Hellin A C; Jamar M; Pierquin G; Bours V; Verloes A
Precocious puberty associated with partial trisomy 18q and monosomy 11q.
Genetic counseling (Geneva, Switzerland) 2007;
18(
2):.
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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