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.
AuthorsL Mutesa, A C Hellin, M Jamar, G Pierquin, V Bours, A Verloes
JournalGenetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 18 Issue 2 Pg. 201-7 ( 2007) ISSN: 1015-8146 [Print] Switzerland
PMID17710872 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
  • Abnormalities, Multiple (diagnosis, genetics)
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 11 (genetics)
  • Chromosomes, Human, Pair 18 (genetics)
  • Craniofacial Abnormalities (diagnosis, genetics)
  • Developmental Disabilities (diagnosis, genetics)
  • Facies
  • Female
  • Follow-Up Studies
  • Heterozygote Detection
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Monosomy (genetics)
  • Puberty, Precocious (genetics)
  • Translocation, Genetic (genetics)
  • Trisomy (genetics)

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