Affiliation: St. Michael's Hospital
- Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcomeD Chitayat
Department of Obstetrics and Gynecology, Toronto Hospital, Ontario, Canada
Am J Med Genet 84:401-5. 1999..To our knowledge, there are only two previously published cases of compound heterozygous achondroplasia-hypochondroplasia patients. The diagnosis was confirmed by DNA mutation analysis of the FGFR3 gene in both cases...
- Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalitiesD Chitayat
Department of Obstetrics and Gynecology, Mount Sinai Hospital, The University of Toronto, Ontario, Canada
Curr Opin Obstet Gynecol 12:77-80. 2000..Genetic counselling is important because this information should be communicated to the family in simple language, with care and sensitivity, so that the family can make decisions that are fully informed...
- Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnosesM S Song
Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 33:552-9. 2009....
- The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosisE J T Winsor
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada
Prenat Diagn 30:746-52. 2010..Data from this and other published studies were used to discuss current practice guidelines for molecular identity testing...
- False diagnosis of renal agenesis on fetal MRIM Sgro
Department of Pediatrics, St Michael s Hospital, University of Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 25:197-200. 2005..The second twin had bilateral renal agenesis and died of pulmonary hypoplasia. Care should be taken when using fetal MRI to replace fetal ultrasound in cases with poor visibility...
- Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 casesH Amsalem
Fetal Medicine Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 37:678-83. 2011..To date, only a few prenatally diagnosed cases have been reported. We report on 10 cases diagnosed prenatally and their postnatal/autopsy findings...
- Sudden infant death in a patient with FGFR3 P250R mutationP S Shah
Department of Paediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 140:2794-6. 2006..We report a family with this mutation associated with sudden death in an affected newborn, most probably due to upper airway obstruction...
- Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndromeJ Vajsar
Division of Neurology, Hospital for Sick Children and University of Toronto, Ontario, Canada
Pediatr Neurol 22:139-43. 2000....
- Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndromeC M Roifman
Division of Immunology and Allergy, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada
Clin Genet 76:449-57. 2009..To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology...
- First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndromeJ M Johnson
Department of Obstetrics and Gynecology, Prenatal Diagnosis Program, Mount Sinai Hospital, Toronto, Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 17:344-6. 2001..During the pregnancy with the affected child the maternal serum screen (MSS) showed low estriol level. We believe this to be the second report of a low estriol level on MSS in a pregnancy affected with Zellweger syndrome...
- Fetal cardiac calcifications: report of four prenatally diagnosed cases and review of the literatureM J Simchen
The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 27:325-30. 2006..The living child has findings suggestive of an intrauterine infection, although no infectious entity was identified. Long-term follow-up showed sensorineural hearing loss and severe developmental delay...
- Functional disomy of Xp: prenatal findings and postnatal outcomeE Kolomietz
Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 134:393-8. 2005..Because the derivative chromosome was not subject to X inactivation, functional disomy of Xp11.2 --> pter most likely accounts for the abnormal phenotype in this patient...
- Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imagingK W Fong
Department of Medical Imaging, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 24:716-23. 2004..To report on the prenatal ultrasound findings in fetuses with lissencephaly associated with Miller-Dieker syndrome (MDS) and to compare these findings with those of magnetic resonance imaging (MRI)...
- Diffusion-weighted imaging of the cerebellum in the fetus with Chiari II malformationC Mignone Philpott
Division of Neuroradiology, Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
AJNR Am J Neuroradiol 34:1656-60. 2013..We sought to investigate whether there were any quantitative ADC abnormalities of the cerebellum in fetuses with this malformation...
- Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutationsM Li
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
Genomics 74:370-6. 2001..9%. This is the first report of an analysis of the imprinting status of genes in the 11p15 region where CDKN1C mutations were associated with loss of IGF2 imprinting and maintenance of H19 and KCNQ1OT1 imprinting...
- Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysisM Sgro
Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 23:73-6. 2004..To our knowledge this is the third case of Caroli's disease detected prenatally and the first in which the infant survived...
- Placental size and the prediction of severe early-onset intrauterine growth restriction in women with low pregnancy-associated plasma protein-AL K Proctor
Placenta Clinic, Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1X5, Canada
Ultrasound Obstet Gynecol 34:274-82. 2009..Our objective was to evaluate placental size and uterine artery (UtA) Doppler imaging as second-stage screening tests for women with low PAPP-A...
- Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasoundJ M Johnson
Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Ultrasound Obstet Gynecol 25:184-6. 2005..A few cases in the literature have described this syndrome, but to the best of our knowledge the present case is the first early prenatal diagnosis of this severe condition using three-dimensional ultrasonography...
- A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndromeL R Osborne
Department of Medicine, The University of Toronto, 1 King's College Circle, Toronto, Ontario, Canada
Nat Genet 29:321-5. 2001..It may result in predisposition to primarily WBS-causing microdeletions, but may also cause translocations and inversions...
- Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)R A Spritz
Department of Genetics, University of Wisconsin, Madison 53706, USA
Hum Mutat 10:171-4. 1997
- Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)R A Spritz
Department of Medical Genetics, University of Wisconsin Madison 53706, USA
Hum Mutat 10:175-7. 1997
- Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasiaL E Bernard
Department of Medical Genetics, University of British Columbia, Vancouver, Canada
J Med Genet 33:432-4. 1996..0 at theta = 0 with marker DXS1043 and the other family has a maximal lod score of 1.2 at theta = 0 with markers DXS1224 and DXS418. Both families therefore support the previously reported gene localisation...
- Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky
Nat Genet 17:18-9. 1997
- Rhombencephalosynapsis: prenatal imaging and autopsy findingsF McAuliffe
University College Dublin School of Medicine and Medical Science, Obstetrics and Gynaecology, National Maternity Hospital, Dublin, Ireland
Ultrasound Obstet Gynecol 31:542-8. 2008..Rhombencephalosynapsis is associated with significant developmental delay, seizures and involuntary head movements. We report four cases, with correlation of prenatal and postnatal imaging and autopsy findings...
- OEIS complex: prenatal ultrasound and autopsy findingsZ Ben-Neriah
The Department of Human Genetics, Hadassah Medical Center, The Hebrew University, Jerusalem, Israel
Ultrasound Obstet Gynecol 29:170-7. 2007..To describe prenatal ultrasound and autopsy findings in fetuses with OEIS (omphalocele, bladder exstrophy, imperforate anus, spina bifida) complex...
- Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imagingM Rohrbach
Department of Pediatrics, Division of Clinicaland Metabolic Genetics, Hospital for Sick Children, Toronto, Canada
Fetal Diagn Ther 22:112-5. 2007....
- Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio, USA
Nat Genet 21:302-4. 1999..The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species...
- Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert
J Med Genet 43:e22. 2006..Our data confirm the broad clinical spectrum of CS with some patients lacking even the characteristic facial gestalt and pigmentary retinopathy at school age...
- Isodicentric Yp: prenatal diagnosis and outcome in 12 casesH Bruyere
Department of Pathology and Laboratory Medicine, Vancouver University of British Columbia, Vancouver, BC, Canada
Prenat Diagn 26:324-9. 2006..2. To review the literature and provide recommendations for cytogenetic analysis and counseling...
- The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, and University of Adelaide Department of Paediatrics, Adelaide, Australia
Am J Hum Genet 68:1386-97. 2001..Appropriate lifestyle decisions and, eventually, perhaps, specific SEDL therapies may ameliorate the prognosis of premature osteoarthritis and the need for hip arthroplasty...
- p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven
Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
Am J Hum Genet 69:481-92. 2001..There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS...
- The mutational spectrum of human malignant autosomal recessive osteopetrosisC Sobacchi
Department of Human Genome and Multifactorial Disease, Istituto di Tecnologie, Biomediche Avanzate, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi 93, 20090 Segrate Mi, Italy
Hum Mol Genet 10:1767-73. 2001..This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition...
- Juvenile galactosialidosis in a white male: a new variantD Chitayat
Department of Medical Genetics, Grace Hospital, Vancouver, British Columbia, Canada
Am J Med Genet 31:887-901. 1988..We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant...