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Chin-To Fong, M.D.
UR Medicine Faculty The University of Rochester Medical Faculty Group (URMFG) consists of over 900 specialist and primary care providers spanning 19 departments. URMFG is certified by the National Committee for Quality Assurance.
Accountable Health Partner Accountable Health Partners (AHP) is a network of over 2,000 community and UR medical faculty and a dozen leading hospitals throughout the region. AHP offers a full range of care.
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Locations

Medical Genetics (Adult)

601 Elmwood Avenue, Ground Floor
Rochester, NY 14626

About Me

Dr, Fong provide care for newborns, children, teens, and adults who have genetic and metabolic disorders. He treats a variety of conditions, including birth defects, chromosome abnormalities, cystic fibrosis, developmental disabilities, Fragile X syndrome, Neurofibromatosis, Marfan syndrome, Prad...
Dr, Fong provide care for newborns, children, teens, and adults who have genetic and metabolic disorders. He treats a variety of conditions, including birth defects, chromosome abnormalities, cystic fibrosis, developmental disabilities, Fragile X syndrome, Neurofibromatosis, Marfan syndrome, Prader-Willi and Angelman syndrome, Skeletal dysplasias and inborn errors of metabolism, including Medium-Chain Acyl-CoA Dehydrogenase deficiency (MCADD) and Phenylketonuria (PKU).

Dr. Fong has extensive experience working in his field and the Chief of Pediatric Genetics.

Certified Specialties

Clinical Biochemical Genetics - American Board of Medical Genetics

Medical Genetics, Clinical Genetics (M.D.) - American Board of Medical Genetics

Pediatrics - American Board of Pediatrics

Credentials

Residency & Fellowship

Fellowship, Medical Genetics, Clinical Biochemical Genetics, Washington University School Of Medicine. 1984 - 1987

Residency, Pediatrics, Washington University School Of Medicine. 1982 - 1984

Internship, Pediatrics, Washington University School Of Medicine. 1981 - 1982

Education

MD | Harvard Medical School. 1981

Awards

Arnold P. Gold Humanism Honor Society Inductee. 2014

The Association of American Medical Colleges Arnold P. Gold Foundation Humanism in Medicine Award. 2012

Elected Student Marshall for Commencement Exercise. 2009

Elected Alpha Omega Alpha Zeta Chapter Annual Lecturer. 2008

Leonard Tow Humanism in Medicine Award. 2007 - 2013

Gold Medal Award for Excellence in Teaching. 2007

Elected Faculty Commencement Speaker. 2004

Outstanding Faculty Teaching Award. 2004

First Annual Loss Science Lecturer. 2004

Elected member of Alpha Omega Alpha Zeta Chapter. 2004

Manuel D. Goldman Prize for Excellence in First Year Teaching. 2004 - 2005

URSMD Nominee of the American Association of Medical Colleges Award for Humanism in Medicine. 2003

Commendation for First Year Teaching. 2003

DeWitt Brower Dean's Teaching Fellowship. 2002 - 2003

Manuel D. Goldman Prize for Excellence in First Year Teaching. 2002

Ruth A. Lawrence Academic Faculty Service Award, Department of Pediatrics,. 2001

Outstanding Faculty Teaching Award given by the Pediatrics Housestaff. 1993 - 1994

Research

Dr. Fong's primary research interest is Genetics of orofacial clefts. Cleft lip and palate is a common birth defect that affects one in 700 children in the U. S. and around the world. Children with this birth defect face multiple challenges, such as feeding difficulty, hearing impairment, speech d...
Dr. Fong's primary research interest is Genetics of orofacial clefts. Cleft lip and palate is a common birth defect that affects one in 700 children in the U. S. and around the world. Children with this birth defect face multiple challenges, such as feeding difficulty, hearing impairment, speech defects and many dental abnormalities. These problems, along with the cosmetic changes associated with the clefts, often result in life-long physical, educational and psychological handicaps. Caring of these children thus requires a team approach over long periods of time.

Cleft lip and palate is a familial trait, but the genetic factors that result in this abnormality have not been clearly identified. Recent calculations have led to the belief that as many as a couple dozen genetic factors may act together to cause cleft lip and palate, with a few of the factors being more important than the rest. Moreover, there is convincing evidence that environment factors, such as cigarette smoking by the pregnant mother, play a role in the development of cleft lip and palate in the fetus.

In these situations, the environmental and genetic factors act together to cause the birth defect. Therefore, cleft lip and palate is considered a multifactorial genetic disorder. The work in our laboratory is focused on finding the genetic factors for cleft lip and palate through linkage disequilibrium analyses. We believe that better treatment and prevention of cleft lip and palate will come from a better understanding of these genetic and environmental factors.

Publications

Journal Articles

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, , Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P

Genetics in medicine : official journal of the American College of Medical Genetics.. 2019 March 21 (3):663-675. Epub 08/30/2018.

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR

American journal of medical genetics. Part A.. 2018 January 176 (1):56-67. Epub 11/17/2017.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M, , van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M

American journal of human genetics.. 2016 October 699 (4):934-941. Epub 09/08/2016.

A culinary laboratory for nutrition education.

Jacob M, Stewart P, Medina-Walpole A, Fong CT

The clinical teacher.. 2016 June 13 (3):197-201. Epub 06/25/2015.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK

Neurogenetics.. 2016 January 17 (1):43-9. Epub 11/17/2015.

A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia.

Wittlieb-Weber CA, Haude KM, Fong CT, Vinocur JM

HeartRhythm case reports.. 2016 January 2 (1):32-35. Epub 10/13/2015.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F

American journal of human genetics.. 2014 November 695 (5):579-83. Epub 10/16/2014.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM

JAMA.. 2014 August 20312 (7):729-38. Epub 1900 01 01.

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

Grange DK, Hillman RE, Burton BK, Yano S, Vockley J, Fong CT, Hunt J, Mahoney JJ, Cohen-Pfeffer JL, ,

Molecular genetics and metabolism.. 2014 May 112 (1):9-16. Epub 03/12/2014.

Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.

Petersen AK, Ahmad A, Shafiq M, Brown-Kipphut B, Fong CT, Anwar Iqbal M

European journal of medical genetics.. 2013 February 56 (2):118-22. Epub 12/16/2012.

GRM7 variants associated with age-related hearing loss based on auditory perception.

Newman DL, Fisher LM, Ohmen J, Parody R, Fong CT, Frisina ST, Mapes F, Eddins DA, Robert Frisina D, Frisina RD, Friedman RA

Hearing research.. 2012 December 294 (1-2):125-32. Epub 10/25/2012.

Knowledge, perception, and behaviors of relatives of people with premature heart disease: a systematic literature review.

Ton TG, Fogg TT, Fong CT, John C, Li SX, Marshall JA, Peters K, Neal W, Pearson TA

Circulation.. 2011 August 23124 (8):958-64. Epub 1900 01 01.

Transverse craniofacial features and their genetic predisposition in families with nonsyndromic unilateral cleft lip and palate.

Yoon YJ, Perkiomaki MR, Tallents RH, Barillas I, Herrera-Guido R, Fong CT, Kyrkanides S

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.. 2004 May 41 (3):256-61. Epub 1900 01 01.

Association of nasomaxillary asymmetry in children with unilateral cleft lip and palate and their parents.

Yoon YJ, Perkiomaki MR, Tallents RH, Barillas I, Herrera-Guido R, Fong CT, Kyrkanides S

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.. 2003 September 40 (5):493-7. Epub 1900 01 01.

Association of distinct craniofacial features in nonsyndromic cleft lip and palate family members.

Perkiomaki MR, Yoon YJ, Tallents RH, Barillas I, Herrera-Guido R, Moss ME, Fong CT, Kyrkanides S

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.. 2003 July 40 (4):397-402. Epub 1900 01 01.

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA

Nature genetics.. 2002 March 30 (3):321-4. Epub 02/11/2002.

Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome.

Fong CT, Wang M, Young EC, Hogan CA, Tallents RH, Kyrkanides S, Liptak GS, Sanger JA, Frisina RD

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.. 2001 November 125 (5):557-8. Epub 1900 01 01.

Suppression of tumorigenicity in human ovarian carcinoma cell line SKOV-3 by microcell-mediated transfer of chromosome 11.

Cao Q, Abeysinghe H, Chow O, Xu J, Kaung H, Fong C, Keng P, Insel RA, Lee WM, Barrett JC, Wang N

Cancer genetics and cytogenetics.. 2001 September 129 (2):131-7. Epub 1900 01 01.

Pathology teach and tell: congenital hepatic fibrosis and autosomal dominant polycystic kidney disease.

Kaczorowski JM, Halterman JS, Spitalnik P, Mannick E, Fong CT, Seaman JM

Pediatric pathology & molecular medicine. 2001 20 (3):245-8. Epub 1900 01 01.

Index of suspicion.

Pediatrics in review. 2000 September 21 (9):315-20. Epub 1900 01 01.

Schwann cell-onion bulb tumor of the trigeminal nerve: hyperplasia, dysplasia or neoplasia?

LaPoint,S. F.; Powers,J. M.; Woodruff,J. M.; MacCollin,M.; Jacoby,L. B.; Vortmeyer,A. O.; Zhuang,Z.; Fong,C. T.; Ifthikharuddin,S. F.; Teot,L.; Coniglio,J. U.; Sullivan,R. P.;.

Acta Neuropathol.(Berl). 2000; 99(1): 67-72.

Hyponatremia secondary to reset osmostat in a child with a central nervous system midline defect and a chromosomal abnormality.

Gupta P, Mick G, Fong CT, Jospe N, McCormick K

Journal of pediatric endocrinology & metabolism : JPEM.. 2000 13 (9):1637-41. Epub 1900 01 01.

Prenatal identification of de novo marker chromosomes using micro-FISH approach.

Xu J, Fong CT, Cedrone E, Sullivan J, Wang N

Clinical genetics.. 1998 June 53 (6):490-6. Epub 1900 01 01.

X-linked female band heterotopia-male lissencephaly syndrome.

Berg MJ, Schifitto G, Powers JM, Martinez-Capolino C, Fong CT, Myers GJ, Epstein LG, Walsh CA

Neurology.. 1998 April 50 (4):1143-6. Epub 1900 01 01.

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA

American journal of human genetics.. 1998 March 62 (3):593-8. Epub 1900 01 01.

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN, Bresnick GH, Giedion A, Lachman RS, Rimoin DL

American journal of medical genetics.. 1997 December 1973 (3):279-85. Epub 1900 01 01.

Principles of inborn errors of metabolism: an exercise.

Fong CT

Pediatrics in review. 1995 October 16 (10):390-5. Epub 1900 01 01.

Molecular diagnosis of genetic diseases.

Fong CT

Pediatric annals.. 1993 May 22 (5):304-10. Epub 1900 01 01.

Clinical diagnosis of genetic diseases.

Fong CT

Pediatric annals.. 1993 May 22 (5):277-81. Epub 1900 01 01.

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.

Marchuk DA, Tavakkol R, Wallace MR, Brownstein BH, Taillon-Miller P, Fong CT, Legius E, Andersen LB, Glover TW, Collins FS

Genomics.. 1992 July 13 (3):672-80. Epub 1900 01 01.

Loss of heterozygosity for chromosomes 1 or 14 defines subsets of advanced neuroblastomas.

Fong CT, White PS, Peterson K, Sapienza C, Cavenee WK, Kern SE, Vogelstein B, Cantor AB, Look AT, Brodeur GM

Cancer research.. 1992 April 152 (7):1780-5. Epub 1900 01 01.

Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes.

Moley JF, Brother MB, Fong CT, White PS, Baylin SB, Nelkin B, Wells SA, Brodeur GM

Cancer research.. 1992 February 1552 (4):770-4. Epub 1900 01 01.

Molecular biology and genetics of human neuroblastoma.

Brodeur GM, Fong CT

Cancer genetics and cytogenetics.. 1989 September 41 (2):153-74. Epub 1900 01 01.

Loss of heterozygosity for the short arm of chromosome 1 in human neuroblastomas: correlation with N-myc amplification.

Fong CT, Dracopoli NC, White PS, Merrill PT, Griffith RC, Housman DE, Brodeur GM

Proceedings of the National Academy of Sciences of the United States of America.. 1989 May 86 (10):3753-7. Epub 1900 01 01.

Molecular analysis and clinical significance of N-myc amplification and chromosome 1p monosomy in human neuroblastomas.

Brodeur GM, Fong CT, Morita M, Griffith R, Hayes FA, Seeger RC

Progress in clinical and biological research.. 1988 271 :3-15. Epub 1900 01 01.

Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis.

Fong CT, Brodeur GM

Cancer genetics and cytogenetics.. 1987 September 28 (1):55-76. Epub 1900 01 01.

Neonatal septicemia due to Pseudomonas aeruginosa.

Barton LL, Lustig RH, Fong CT, Walentik CA

American family physician.. 1986 March 33 (3):147-51. Epub 1900 01 01.

Depletion of alloreactive cytotoxic T-lymphocytes using liposomes prepared from plasma membranes of P815 mastocytoma cells

Fong C-T.

Doctoral Thesis. 1981; .

Idiotypes of myeloma protein of BALB/c origin in normal BALB/c immunoglobulins

Fong C-T.

Master's Thesis,. 1978; .

Books

The Merck Manual (2005)

Chapter: Inherited Disorders of Metabolism

Authors: Fong C-T

Publisher: Merck Research Laboratories, Whitehouse Station, NJ 2005

The Pediatric Clinical Advisor (2005)

Chapter: Cleft Lip/Palate

Authors: Girotto J, Fong C-T

Publisher: Mosby, St. Louis, MO 2005

The Pediatric Clinical Advisor (2005)

Chapter: Neurofibromatosis

Authors: Fong C-T

Publisher: Mosby, St. Louis, MO 2005

The Pediatric Clinical Advisor (2005)

Chapter: Osteogenesis Imperfecta

Authors: Fong C-T

Publisher: Mosby, St. Louis, MO 2005

The Pediatric Clinical Advisor (2005)

Chapter: Turner syndrome

Authors: Fong C-T, Artman H

Publisher: Mosby, St. Louis, MO 2005

Protecting Study Volunteers In Research  A Manual for Investigative Sites (2004)

Chapter: Ethical Issues in Genetic Research

Authors: Fong C-T

Publisher: Centerwatch, Thompsom Healthcare 2004

The Pediatric Clinical Advisor (2002)

Chapter: Cleft Lip/Palate

Authors: Losee J, Fong C-T

Publisher: Mosby, St. Louis, MO 2002

The Pediatric Clinical Advisor (2002)

Chapter: Neurofibromatosis

Authors: Fong C-T

Publisher: Mosby, St. Louis, MO 2002

The Pediatric Clinical Advisor (2002)

Chapter: Osteogenesis Imperfecta

Authors: Fong C-T

Publisher: Mosby, St. Louis, MO 2002

The Pediatric Clinical Advisor (2002)

Chapter: Turner syndrome .

Authors: Fong C-T

Publisher: Mosby, St. Louis, MO 2002

Protecting Study Volunteers In Research  A Manual for Investigative Sites (2002)

Chapter: Ethical Issues in Genetic Research

Authors: Fong C-T

Publisher: Centerwatch, Thompsom Healthcare 2002

The Merck Manual (1999)

Chapter: Genetic abnormalities of carbohydrate metabolism

Authors: Fong C-T

Publisher: Merck Research Laboratories 1999

The Merck Manual (1999)

Chapter: Anomalies in amino acid metabolism

Authors: Fong C-T

Publisher: Merck Research Laboratories 1999

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