The Korean Journal of Laboratory Medicine  2010;30(3):318-324

doi:10.3343/kjlm.2010.30.3.318

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences.

Maria de los Angeles GUTIERREZ-FRANCO 1 ; Maria de la Luz MADARIAGA-CAMPOS ; Ana I VASQUEZ-VELASQUEZ ; Esmeralda MATUTE ; Roberto GUEVARA-YANEZ ; Horacio RIVERA

Affiliations

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Keywords

Chromosome 15; Distal 15q duplication; 15q overgrowth syndrome; Interstitial telomere

Country

Republic of Korea

Language

English

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.