D Chitayat

Summary

Affiliation: St. Michael's Hospital
Country: Canada

Publications

  1. ncbi Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome
    D Chitayat
    Department of Obstetrics and Gynecology, Toronto Hospital, Ontario, Canada
    Am J Med Genet 84:401-5. 1999
  2. ncbi Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities
    D Chitayat
    Department of Obstetrics and Gynecology, Mount Sinai Hospital, The University of Toronto, Ontario, Canada
    Curr Opin Obstet Gynecol 12:77-80. 2000
  3. doi Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses
    M 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
  4. doi The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis
    E J T Winsor
    Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada
    Prenat Diagn 30:746-52. 2010
  5. doi Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases
    H 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
  6. ncbi Sudden infant death in a patient with FGFR3 P250R mutation
    P S Shah
    Department of Paediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 140:2794-6. 2006
  7. ncbi False diagnosis of renal agenesis on fetal MRI
    M Sgro
    Department of Pediatrics, St Michael s Hospital, University of Toronto, Ontario, Canada
    Ultrasound Obstet Gynecol 25:197-200. 2005
  8. ncbi Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome
    J Vajsar
    Division of Neurology, Hospital for Sick Children and University of Toronto, Ontario, Canada
    Pediatr Neurol 22:139-43. 2000
  9. doi Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
    C 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
  10. ncbi Fetal cardiac calcifications: report of four prenatally diagnosed cases and review of the literature
    M 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

Collaborators

Detail Information

Publications32

  1. ncbi Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome
    D 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...
  2. ncbi Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities
    D 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...
  3. doi Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses
    M 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
    ....
  4. doi The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis
    E 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...
  5. doi Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases
    H 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...
  6. ncbi Sudden infant death in a patient with FGFR3 P250R mutation
    P 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...
  7. ncbi False diagnosis of renal agenesis on fetal MRI
    M 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...
  8. ncbi Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome
    J Vajsar
    Division of Neurology, Hospital for Sick Children and University of Toronto, Ontario, Canada
    Pediatr Neurol 22:139-43. 2000
    ....
  9. doi Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
    C 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...
  10. ncbi Fetal cardiac calcifications: report of four prenatally diagnosed cases and review of the literature
    M 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...
  11. ncbi Functional disomy of Xp: prenatal findings and postnatal outcome
    E 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...
  12. ncbi Prenatal ultrasound findings of lissencephaly associated with Miller-Dieker syndrome and comparison with pre- and postnatal magnetic resonance imaging
    K 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)...
  13. ncbi First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome
    J 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...
  14. ncbi Early prenatal diagnosis of oculoauriculofrontonasal syndrome by three-dimensional ultrasound
    J 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...
  15. ncbi Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis
    M 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...
  16. ncbi Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations
    M 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...
  17. doi Placental size and the prediction of severe early-onset intrauterine growth restriction in women with low pregnancy-associated plasma protein-A
    L 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...
  18. pmc A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
    L 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...
  19. doi Rhombencephalosynapsis: prenatal imaging and autopsy findings
    F 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...
  20. ncbi 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
  21. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H 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...
  22. ncbi Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
    Y 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...
  23. pmc Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia
    L 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...
  24. ncbi OEIS complex: prenatal ultrasound and autopsy findings
    Z 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...
  25. ncbi Prenatal diagnosis of fetal exencephaly associated with amniotic band sequence at 17 weeks of gestation by fetal magnetic resonance imaging
    M Rohrbach
    Department of Pediatrics, Division of Clinicaland Metabolic Genetics, Hospital for Sick Children, Toronto, Canada
    Fetal Diagn Ther 22:112-5. 2007
    ....
  26. ncbi 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
  27. pmc Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
    W 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...
  28. ncbi Isodicentric Yp: prenatal diagnosis and outcome in 12 cases
    H 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...
  29. pmc The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
    A 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...
  30. ncbi Mutations in CDMP1 cause autosomal dominant brachydactyly type C
    A Polinkovsky
    Nat Genet 17:18-9. 1997
  31. ncbi The mutational spectrum of human malignant autosomal recessive osteopetrosis
    C 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...
  32. ncbi Juvenile galactosialidosis in a white male: a new variant
    D 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...