Korean J Lab Med.
2010 Jun;30(3):318-324. 10.3343/kjlm.2010.30.3.318.
A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences
- Affiliations
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- 1Department of Genetics, Institute of Biological Sciences, Autonomous University of Guadalajara, Guadalajara, Mexico.
- 2Division of Genetics, CIBO, Mexican Institute of Social Welfare, Guadalajara, Mexico. hrivera@cencar.udg.mx
- 3Institute of Neurosciences, CUCBA, University of Guadalajara, Guadalajara, Mexico.
- 4BIOGEN Laboratory, Guadalajara, Mexico.
- 5Human Genetics Doctorate Program, CUCS, University of Guadalajara, Guadalajara, Mexico.
- KMID: 1781634
- DOI: http://doi.org/10.3343/kjlm.2010.30.3.318
Abstract
- Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup(15)(q24q26.3)[117]/46,XX[3].ish dup(15)(q24q26.3) (SNPRN+,PML+,subtel++,tel++) de novo karyotype. The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences.
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