Mohd Fadly et al. Journal of Medical Case Reports 2012, 6:30 http://www.jmedicalcasereports.com/content/6/1/30 features include a prominent nasal bridge, down-slanting palpebral fissures, a small mouth, low set ears, bilateral broad thumbs and great toes and growth retardation. Congenital heart defects (mainly patent ductus arterio- sus, ventricular septal defect and atrial septal defect) were observed in 32% of patients [3]. Although excessive hair growth (hirsutism) is found in 75% of cases [14], our patient interestingly had sparse hair, a condition that has not previously been reported in a typical RSTS patient. Whether this manifestation is affected by the abnormality of Trap1 is uncertain. Since our patient showed most of the typical features of RSTS, we hypothesized that this region is haplosufficient inasmuch that the deletion of Trap1 bore no significant complica- tion to our patient. However, further studies are needed to clarify the potential role of Trap1 in 16 p13.3 microdeletion. RSTS can be regarded as a microdeletion syndrome with a low rate of microdeletions, as only 4% to 25% of patients with RSTS were found to have the Crebbp dele- tion on chromosome 16 p13.3 when using fluorescence in situ hybridization [7]. It is critical that the diagnosis of an unexplained syndromic condition, especially in young patients, is confirmed by an advanced laboratory technique such as array-CGH. An accurate diagnosis will enable the precision of long-term care and a health surveillance program for patients with RSTS. This includes regular monitoring for the emergence of tumors, immunodeficiencies, early surgical correction of surgical and orthopedic complications, genetic counsel- ing for future pregnancy and prenatal diagnosis. In addi- tion, there is little published literature of longitudinal studies on this syndrome in the population. The finding from our patient adds to the increased awareness of RSTS variability in the population. Our case has been deposited into the Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER-Patient ID: 254034) [15]. Conclusion We found this case worthy of reporting as, to date, there is very little documented evidence of this syndrome ascertained by microarray analysis. Here, we demon- strate the superiority of the array-CGH technique over conventional techniques in the screening and detection of clinically significant genomic imbalances in the human genome. Array-CGH is a reliable and powerful tool in the investigation of rare genetic conditions, espe- cially cases with a highly variable phenotype and variable aberrations such as Rubinstein-Taybi syndrome. Consent Written informed consent was obtained from the par- ents of our patient for publication of this case report Page 6 of 7 and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Acknowledgements The authors thank the Director General of Health, Malaysia, for permission to publish this scientific paper. We would also like to thank Deputy Director General of Health (Research & Technical Support, Ministry of Health Malaysia) and the Director of the Institute for Medical Research for their support. We would also like to express our gratitude to Ten Sew Keoh for her help in language and writing assistance. This research was funded by the Ministry of Health Malaysia (JPP-IMR 07-041). Author details 1Unit of Hematology, Cancer Research Center, Institute for Medical Research, 50588 Kuala Lumpur, Malaysia. 2Department of Pediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. 3Advance Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Pulau Pinang, Malaysia. Authors’ contributions MFMA conducted the array CGH work, performed the data analysis relevant to this case report and drafted this manuscript. TMK provided all clinical details and genetic counseling for the patient and her parents. AI performed the checking procedures for this case and reviewed the manuscript. TMK, NMY, ZZ reviewed the manuscript. All authors read and approved the final manuscript. Competing interests The authors declare that they have no competing interests. Received: 13 July 2011 Accepted: 23 January 2012 Published: 23 January 2012 References 1. Rubinstein JH, Taybi H: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 1963, 105:588-608. 2. Hennekam RCM, Stevens CA, Van de Kamp JJ: Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl 1990, 6:56-64. 3. Hennekem RCM: Rubinstein-Taybi syndrome. Eur J Hum Genet 2006, 14:981-985. 4. 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