en ENGLISH
ISSN: 1734-1558
Forum Ortodontyczne / Orthodontic Forum
Bieżący numer Archiwum O czasopiśmie Rada naukowa Recenzenci Bazy indeksacyjne Prenumerata Kontakt Zasady publikacji prac Standardy etyczne i procedury
SCImago Journal & Country Rank
1/2021
vol. 17
 
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Opis przypadku

Współwystępowanie zespołu delecji 22q11.2, wraz z zespołem SMMCI Studium przypadków monozygotycznych bliźniąt – doniesienie wstępne

Konrad Małkiewicz
1
,
Natalia Mąkal
1
,
Jakub Bartczak
2
,
Krzysztof Zeman
3
,
Agnieszka Moll-Maryńczak
3
,
Sylwia Majewska-Beśka
4

1.
Department of Orthodontics, the Medical University of Łódź
2.
Outpatient Clinic of Orthodontics, Central Teaching Hospital, the Medical University of Łódź
3.
Department of Paediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute in Łódź
4.
Department of the Developmental Age Dentistry, Chair of Developmental Age Dentistry, the Medical University of Łódź
Forum Ortod 2021; 17 (1): 41-9
Data publikacji online: 2021/05/04
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1. Palmer L, Butcher NJ,Boot E, Hodgkinson KA, Heung T, Chow E, Guna A, Crowley B, Zackai E, McDonald-McGinn DM, Bassett AS.Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176: 936-44.
2. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen S, Merritt RK, O’Leary LA, Wong L-Y, Elixon EM, Mahle WT, Campbell RM. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003; 112: 101-7.
3. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998; 35: 789-90.
4. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998; 79: 348-51.
5. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004; 89: 148-51.
6. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Prim 2015; 19: 150-71.
7. Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Human Molec Gen 2008; 17: 4045-53.
8. Scott DC. Absence of upper central incisor. Br Dent J 1958; 104: 247-8.
9. Bazan MT. Fusion of maxillary incisor across the midline: Clinical Report Pediatr Dent 1983; 5: 220-1.
10. Camera G, Bavone S, Zucchinetti P, Pozzolo S, Giunta E. Single maxillary central incisor and holoprosencephaly. Pathologica 1992; 84: 425-8.
11. Szakszon K, Felszeghy E, Csizy I, Jozsa T, Kaposzta R, Balogh E, Olah E, Balogh I, Berenyi E, Knegt AC, Ilyes I. Endocrine and anatomical findings in a case of Solitary Median Maxillary Central incisor Syndrome. Eur J Med Genet 2012; 55: 109-11.
12. Yang H-C, Shyur S-D, Huang L-H, Chang Y-C, Wen D-C, Liang P-H, Lin M-T. DiGeorge Syndrome Associated with Solitary Median Maxillary Central Incisor. Asian Pacific J Allergy Immunol 2005; 23: 159- 63.
13. Halder A, Jain M, Chaudhary I, Varma B. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Molec Cytogen 2012; 5: 13.
14. SinghS M, Murphy B, O’Reilly R. Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis. J Med Genet 2002; 39: e71.
15. Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene. Am J Hum Genet 2004; 75: 410-23.
16. Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009; 41: 931-5.
17. Driscoll DA, Boland T, Emanuel BS, Kirschner RE, LaRossa D, Manson J, McDonald-McGinn D, Randall P, Solot C, Zackai E, Mitchell LE. Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome. Cleft Palate Craniofac J 2006; 43: 435-41.
1. Palmer L, Butcher NJ,Boot E, Hodgkinson KA, Heung T, Chow E, Guna A, Crowley B, Zackai E, McDonald-McGinn DM, Bassett AS.Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176: 936-44.
2. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen S, Merritt RK, O’Leary LA, Wong L-Y, Elixon EM, Mahle WT, Campbell RM. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003; 112: 101-7.
3. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998; 35: 789-90.
4. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998; 79: 348-51.
5. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004; 89: 148-51.
6. McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Prim 2015; 19: 150-71.
7. Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Human Molec Gen 2008; 17: 4045-53.
8. Scott DC. Absence of upper central incisor. Br Dent J 1958; 104: 247-8.
9. Bazan MT. Fusion of maxillary incisor across the midline: Clinical Report Pediatr Dent 1983; 5: 220-1.
10. Camera G, Bavone S, Zucchinetti P, Pozzolo S, Giunta E. Single maxillary central incisor and holoprosencephaly. Pathologica 1992; 84: 425-8.
11. Szakszon K, Felszeghy E, Csizy I, Jozsa T, Kaposzta R, Balogh E, Olah E, Balogh I, Berenyi E, Knegt AC, Ilyes I. Endocrine and anatomical findings in a case of Solitary Median Maxillary Central incisor Syndrome. Eur J Med Genet 2012; 55: 109-11.
12. Yang H-C, Shyur S-D, Huang L-H, Chang Y-C, Wen D-C, Liang P-H, Lin M-T. DiGeorge Syndrome Associated with Solitary Median Maxillary Central Incisor. Asian Pacific J Allergy Immunol 2005; 23: 159- 63.
13. Halder A, Jain M, Chaudhary I, Varma B. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Molec Cytogen 2012; 5: 13.
14. SinghS M, Murphy B, O’Reilly R. Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis. J Med Genet 2002; 39: e71.
15. Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene. Am J Hum Genet 2004; 75: 410-23.
16. Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009; 41: 931-5.
17. Driscoll DA, Boland T, Emanuel BS, Kirschner RE, LaRossa D, Manson J, McDonald-McGinn D, Randall P, Solot C, Zackai E, Mitchell LE. Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome. Cleft Palate Craniofac J 2006; 43: 435-41.
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