Precocious puberty associated with partial trisomy 18q and monosomy 11q.

Abstract

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.

• Authors: L Mutesa, A C Hellin, M Jamar, G Pierquin, V Bours, A Verloes
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 18 Issue 2 Pg. 201-7 ( 2007) ISSN: 1015-8146 [Print] Switzerland
• PMID: 17710872 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• 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
• Genetic Carrier Screening
• Humans
• In Situ Hybridization, Fluorescence
• Karyotyping
• Monosomy (genetics)
• Puberty, Precocious (genetics)
• Translocation, Genetic (genetics)
• Trisomy (genetics)