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KMID : 0981820100300030318
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Korean Journal of Laboratory Medicine
2010 Volume.30 No. 3 p.318 ~ p.324
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A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences
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Maria de los Angeles Gutierrez-Franco
Maria de la Luz Madariaga-Campos
Esmeralda Matute
Roberto Guevara-Yanez
Ana I. Vasquez-Velasquez
Horacio Rivera
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Abstract
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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. (Korean J Lab Med 2010;30:318-24)
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KEYWORD
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Chromosome 15, Distal 15q duplication, 15q overgrowth syndrome, Interstitial telomere
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