A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences.
10.3343/kjlm.2010.30.3.318
- Author:
Maria de los Angeles GUTIERREZ-FRANCO
1
;
Maria de la Luz MADARIAGA-CAMPOS
;
Ana I VASQUEZ-VELASQUEZ
;
Esmeralda MATUTE
;
Roberto GUEVARA-YANEZ
;
Horacio RIVERA
Author Information
1. Department of Genetics, Institute of Biological Sciences, Autonomous University of Guadalajara, Guadalajara, Mexico.
- Publication Type:Case Report
- Keywords:
Chromosome 15;
Distal 15q duplication;
15q overgrowth syndrome;
Interstitial telomere
- MeSH:
Adolescent;
*Chromosome Aberrations;
*Chromosomes, Human, Pair 15;
Female;
Growth Disorders/diagnosis/*genetics;
Humans;
In Situ Hybridization, Fluorescence;
Mental Retardation/diagnosis/*genetics;
Syndrome;
Telomere/*chemistry
- From:The Korean Journal of Laboratory Medicine
2010;30(3):318-324
- CountryRepublic 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.
