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The Korean Journal of Laboratory Medicine ; : 318-324, 2010.
Artigo em Inglês | WPRIM | ID: wpr-58468

RESUMO

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.


Assuntos
Adolescente , Feminino , Humanos , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Transtornos do Crescimento/diagnóstico , Hibridização in Situ Fluorescente , Deficiência Intelectual/diagnóstico , Síndrome , Telômero/química
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