Article (Scientific journals)
Precocious puberty associated with partial trisomy 18q and monosomy 11q
Mutesa, Léon; Hellin, Anne-Cécile; Jamar, Michelle et al.
2007In Genetic Counseling, 18 (2), p. 201-207
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Keywords :
central precocious puberty; partial trisomy 18q; monosomy 11q; maternal translocation
Abstract :
[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.
Disciplines :
Biotechnology
Genetics & genetic processes
Microbiology
Author, co-author :
Mutesa, Léon
Hellin, Anne-Cécile 
Jamar, Michelle ;  Centre Hospitalier Universitaire de Liège - CHU > HOPITAL DE JOUR ONCOLOGIQUE SART TILMAN
Pierquin, Geneviève ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique générale et humaine
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Language :
English
Title :
Precocious puberty associated with partial trisomy 18q and monosomy 11q
Publication date :
2007
Journal title :
Genetic Counseling
ISSN :
1015-8146
Publisher :
Medecine Et Hygiene, Geneva 4, Switzerland
Volume :
18
Issue :
2
Pages :
201-207
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
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