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Womens and, Singapore

Lai A.H.M.,Genetics Service | Brett M.S.,Research Center | Chin W.-H.,Research Center | Lim E.C.P.,Research Center | And 3 more authors.
Gene | Year: 2012

We report a girl with Rubinstein-Taybi syndrome (RSTS) who was found to have copy number loss on 16p13.3 by array-CGH. She has developmental delay and other features of RSTS including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, broad thumbs and big toes, postaxial polydactyly of the right foot and constipation from birth. We report the junction sequence across the breakpoint region for a microdeletion in RSTS. The sequencing results also showed that the deletion was 81.4. kb involving three genes . DNASE 1, . TRAP 1, and . CREBBP. © 2012 Elsevier B.V. Source

Montalvo N.,Pathology Service | Redroban L.,Pathology Service | Espin V.H.,Genetics Service
Journal of Medical Case Reports | Year: 2014

Introduction. Polymelia, or congenital duplication of a limb, is an extremely rare entity in humans, with few cases reported in the literature. Case presentation. We present the case of a six-month-old Hispanic boy born with a lower limb bud on the left posterior thigh. Conclusion: The infant had a favorable outcome and evolution after surgical treatment of his supernumerary limb, with no after-effects or impairment whatsoever. © 2014 Montalvo et al.; licensee BioMed Central Ltd. Source

Tan Z.H.,KK Womens and Childrens | Lai A.,Genetics Service | Chen C.K.,Cardiology Service | Tan A.M.,Hematology Oncology Service
European Journal of Pediatrics | Year: 2013

Hepatoblastoma is a highly malignant embryonal liver tumor that occurs almost exclusively in infants and toddlers. Trisomy 18 is the second most common autosomal trisomy after trisomy 21 and is generally considered a lethal disorder. Ten cases of hepatoblastoma in children with trisomy 18 have been published to date. Here, we report on two female patients with trisomy 18 and pretreatment extent of disease (PRETEXT) stage 1 hepatoblastoma, which support the presence of a nonrandom association between hepatoblastoma and trisomy 18. Both patients underwent primary surgical resection without any neoadjuvant or adjuvant chemotherapy. The histologies returned as pure fetal epithelial type, and combined fetal and embryonal epithelial type. There was no evidence of recurrence on serial abdominal ultrasound and serum alpha-fetoprotein levels on follow-up. Conclusion: Primary surgical resection is a treatment approach that can be considered in children with trisomy 18 and PRETEXT stage 1 tumor. However, in view of the overall prognosis for trisomy 18, the decision on the optimal treatment is a delicate one and has to be individualized in the context of the best interests of the child. © 2013 Springer-Verlag Berlin Heidelberg. Source

Ng I.S.L.,Genetics Service | Chin W.-H.,Research Center | Lim E.C.P.,Research Center | Tan E.-C.,Research Center | Tan E.-C.,National University of Singapore
Twin Research and Human Genetics | Year: 2011

We report a 9-year-old girl with 3 Mb interstitial deletion of chromosome 15q24 identified by oligonucleotide array comparative hybridization. She is of Chinese ancestry and shared some typical features of previously reported 15q24 deletion cases such as mild dysmorphism with developmental and speech delay. She also had mild hearing loss that was reported in one other case. We compared all 19 cases that are identified from array-CGH. The deletion occurred within an 8.3 Mb region from 15q23 to 15q24.3. The minimum overlapping deleted region is less than 0.5 Mb from 72.3 Mb to 72.7 Mb. The functions of the nine annotated genes within the region and how they might contribute to the microdeletion phenotype are discussed. Source

Tan E.-S.,Genetics Service | Yong M.-H.,Cytogenetics Laboratory | Lim E.C.P.,KK Research Laboratory | Li Z.-H.,Genomax Technologies Pte Ltd | And 3 more authors.
Molecular Cytogenetics | Year: 2014

Background: The 15q11-q13 region contains many low copy repeats and is well known for its genomic instability. Several syndromes are associated with genomic imbalance or copy-number-neutral uniparental disomy. We report on two patients: Patient 1 is a boy with developmental delay and autism; and Patient 2 is a girl with developmental delay, hypotonia and dysmorphism. We performed analyses to delineate their dosage in the 15q region, determine whether the patients' dosage correlates with phenotypic severity, and whether genes in the amplified regions are significantly associated with identified functional networks. Results: For the proximal region of 15q, molecular cytogenetic analysis with Agilent oligonucleotide array showed a copy number of 3 for Patient 1 and a copy number of 4 for Patient 2. Fluorescent in situ hybridization analysis of Patient 2 showed two different populations of cells with different marker chromosomes. Methylation analysis of the amplified region showed that the extra copies of small nuclear ribonucleoprotein polypeptide N gene were of maternal origin. Phenotypic severity did not correlate with the size and dosage of 15q, or whether the amplification is interstitial or in the form of a supernumerary marker. Pathway analysis showed that in Patient 2, the main functional networks that are affected by the genes from the duplicated/triplicated regions are developmental disorder, neurological disease and hereditary disease. Conclusions: The 15q11-q13 gains that were found in both patients could explain their phenotypic presentations. This report expands the cohort of patients for which 15q11-q13 duplications are molecularly characterized. © 2014 Tan et al.; licensee BioMed Central Ltd. Source

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