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

被引：0
作者：
Mutesa, L.
Hellin, A. C.
Jamar, M.
Pierquin, G.
Bours, V. [1 ]
Verloes, A.
机构：
[1] Univ Liege, CHU Sart Tilman, Ctr Human Genet, B-4000 Cointe Ougree, Belgium
[2] Hop Robert Debre, Unit Clin Genet, F-75935 Paris, France
来源：
GENETIC COUNSELING | 2007年 / 18卷 / 02期
关键词：
central precocious puberty; partial trisomy 18q; monosomy; 11q; maternal translocation;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
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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页码：201 / 207
页数：7
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