Precocious puberty associated with partial trisomy 18q and monosomy 11q.
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.
Mutesa
L
L
Center for Human Genetics, CHU Sart-Tilman, University of Liège, Belgium.
Hellin
A C
AC
Jamar
M
M
Pierquin
G
G
Bours
V
V
Verloes
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009006:Monosomy / Q000235:genetics*; D011629:Puberty, Precocious / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy / Q000235:genetics*