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1.  Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 
Journal of Medical Genetics  2007;44(4):264-268.
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low‐copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.
PMCID: PMC2598049  PMID: 17220210
osteopoikilosis; short stature; mental retardation;  HMGA2 ;  GRIP1
2.  Familial 5q11.2 → q13.3 Segmental Duplication Cosegregating With Multiple Anomalies, Including Schizophrenia 
We report on 2 relatives with a segmental duplication of 5q11.2 → 13.3. The phenotype is surprisingly limited for the degree of chromosome imbalance, the propositus presenting with schizophrenia. Using RFLP markers, we have shown that the gene for HEXB lies within the duplicated region. We suggest this region as a candidate region for the location of a single major gene which predisposes to schizophrenia and which may be assessed by linkage analysis.
PMCID: PMC3142272  PMID: 1967903 CAMSID: cams1820
segmental duplication 5q; HEXB; gene mapping
Lancet  1988;1(8589):799-801.
Schizophrenia was associated with a distinct autosomal abnormality in two related mildly dysmorphic individuals. The finding of cosegregation of schizophrenia and a partial trisomy of chromosome 5 in the family suggests a potential location of a gene or genes linked to schizophrenia.
PMCID: PMC3139628  PMID: 2895320 CAMSID: cams1818
4.  Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization 
BMC Genomics  2009;10:526.
Array genomic hybridization is being used clinically to detect pathogenic copy number variants in children with intellectual disability and other birth defects. However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution that is most appropriate for clinical use.
We performed 500 K Affymetrix GeneChip® array genomic hybridization in 100 idiopathic intellectual disability trios, each comprised of a child with intellectual disability of unknown cause and both unaffected parents. We found pathogenic genomic imbalance in 16 of these 100 individuals with idiopathic intellectual disability. In comparison, we had found pathogenic genomic imbalance in 11 of 100 children with idiopathic intellectual disability in a previous cohort who had been studied by 100 K GeneChip® array genomic hybridization. Among 54 intellectual disability trios selected from the previous cohort who were re-tested with 500 K GeneChip® array genomic hybridization, we identified all 10 previously-detected pathogenic genomic alterations and at least one additional pathogenic copy number variant that had not been detected with 100 K GeneChip® array genomic hybridization. Many benign copy number variants, including one that was de novo, were also detected with 500 K array genomic hybridization, but it was possible to distinguish the benign and pathogenic copy number variants with confidence in all but 3 (1.9%) of the 154 intellectual disability trios studied.
Affymetrix GeneChip® 500 K array genomic hybridization detected pathogenic genomic imbalance in 10 of 10 patients with idiopathic developmental disability in whom 100 K GeneChip® array genomic hybridization had found genomic imbalance, 1 of 44 patients in whom 100 K GeneChip® array genomic hybridization had found no abnormality, and 16 of 100 patients who had not previously been tested. Effective clinical interpretation of these studies requires considerable skill and experience.
PMCID: PMC2781027  PMID: 19917086
5.  Non-Invasive Prenatal Testing 
Canadian Family Physician  1988;34:895-898.
Non-invasive modalities to assess the ongoing pregnancy may assist the clinician to identify risk factors requiring additions or alteration to routine prenatal care. These modalities include pedigree analysis, maternal serum alphafetoprotein screening, fetal ultrasonography, and Doppler ultrasound. These methods should be used when there are appropriate clinical indications and awareness of their limitations.
PMCID: PMC2218979  PMID: 21253096
maternal serum alphafetoprotein screening; ultrasound; fetal echocardiography; Doppler ultrasound
6.  Prenatal Genetic Counselling 
Canadian Family Physician  1986;32:2149-2152.
Genetic concerns and indications for prenatal diagnosis are first recognized by the family physician. Review of personal, pregnancy and family history may indicate concerns beyond that of advanced maternal age. Amniocentesis is still the most frequently used modality for prenatal diagnosis, but detailed ultrasound is valuable for structural abnormalities, and chorionic villus sampling is now being tested as an alternative to amniocentesis.
PMCID: PMC2328248  PMID: 21267316
prenatal diagnosis; amniocentesis; chorionic villus sampling; prenatal counselling
7.  Tuberous sclerosis: case report and investigation of family members 
Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of the gene for the disease when carefully examined. This article reports on a family with documented tuberous sclerosis in three generations and discusses the examination and investigation of at-risk family members, including the newborn, for signs of the disease. The potential teratogenic effects of anticonvulsants, used to control seizures in tuberous sclerosis, are also discussed.
PMCID: PMC1345871  PMID: 3978502

Results 1-7 (7)