Çoklu Konjenital Anomali Vakası: Parsiyel Trizomi 14 ve Parsiyel Trizomi 22

Aslı Genç; Ahmet Cevdet Ceylan; Betül Siyah; Esra Kılıç

doi:10.12956/tchd.938595

Case Report

Turk J Pediatr Dis 2022; 16(6): 551-554.

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A Case With Multiple Congenital Anomaly: Partial Trisomy 14 and Partial Trisomy 22

Authors

Aslı Genç

Ahmet Cevdet Ceylan

Betül Siyah

Esra Kılıç

Affiliations

Turk J Pediatr Dis 2022; 16(6): 551-554. DOI: 10.12956/tchd.938595

Published: November 30, 2022

Abstract

In this article, the diagnosis of partial trisomy 14 and partial trisomy 22 detected in a newborn with intrauterine growth retardation, dysmorphic facial features and congenital cardiac anomaly is discussed. The incidence of congenital anomalies in live births is 2-6%, and it is thought that genetic reasons are responsible for 60-80% of them. Chromosomal anomalies are seen in 25-35% of congenital anomalies. Reciprocal translocations are the most common cause of these chromosomal rearrangements. In the examinations performed, 46, XY t(14;22) (q24;q11.2) balanced reciprocal translocation carriage was detected in the newborn’s parents with a history of recurrent miscarriage. In such cases, it is essential to provide parents with genetic counseling and discuss prenatal diagnosis options for subsequent pregnancies.

Keywords: Chromosomal anomalies, Congenital anomalies, Reciprocal translocations

References

Gomella TL, Eyal FG, Beny-Mohammed F. Common Multiple Congenital Anomalies: Syndromes, Sequences and Associations, Gomella’s Neonatology. 8th Edition, New York; Mc Graw Hill 2020;853-63.
Oğur G. Kromozom Hastalıkları. Türkiye Klinikleri J Pediatr Sci 2011;7:13-25.
Stanton BF, Behrman RE. Overview of Pediatrics: Kliegman, RM, Stanton FB, St Geme JW, Schor NF, Behrman RE. Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier 2016; 1-18.
Dalton ME, De Chemet AH. Prenatal Diagnosis. N Eng J Med 1993; 328:114-20.
Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P ve ark. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases. BMC Pediatr 2015;15:95.
Nguyen LT, Fleishman R, Flynn E, Prasad R, Moulick A, Mesia CI, ve ark. 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring. Clin Case
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Ulualp SO, Wright CG, Roland PS. Temporal bone histopathologic findings in partial trisomy 13 and partial trisomy 14. Int J Pediatr Otorhinolaryngol 2005 ;69:781-9.
Nazmy N, Elhady G, Refaat E, Kholeif S. Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome. Turk J Pediat 2019; 61:780-5.
Bose D, Krishnamurthy V, Venkatesh KS, Aiyaz M, Shetty M, Rao SN, et al. Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay. Cytogenet Genome Res 2015;145:14–8.
Gupta N, Dalvi R, Koppaka N, Mandava S. Balanced Reciprocal Translocation: Multiple Chromosome Rearrangements in an Infertile Female. J Hum Reprod Sci 2019;12:72-4.
Güneş SÖ, Kara N, Ökten G, Taşdemir HA, Türkeli Sezer Ö, Yiğit S, ve ark. Familial t(1;17)(p34;q25) Balanced Translocation Carrier With Mental Retardation and Epilepsy Cases: Scientific Letter. Turkiye Klinikleri J Med Sci 2008;28:83-6.
Balcı A, Yirmibeş M, Bal F, Mutgan S, Menevşe S. Ailesel resiprokal translokasyon ve tekrarlayan düşükler. Perinataloji Dergisi 1996; 4: 218-9.
Franssen MTM, Korevaar JC, van der Veen F, Leschot NJ, Bossuyt PMM, Goddjin M. Reproductive outcome after chromosome analysis in couples with two or more miscaariages: case-control study. BMJ 2006; 332: 759-63.
Bacino CA, Lee B, Cytogenetics: Kliegman, RM, Stanton FB, St Geme JW, Schor NF, Behrman RE, Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier, 2016; 604-27.
Biçer M, Bezircioğlu İ, Karcı L, Bayazıt S, Baloğlu A. Amniyosentez ile Prenatal Tanı: 315 Olgunun Değerlendirilmesi. Turkiye Klinikleri J Gynecol Obst 2007;17:163-7.
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How to cite

Genç A, Ceylan AC, Siyah B, Kılıç E. A Case With Multiple Congenital Anomaly: Partial Trisomy 14 and Partial Trisomy 22. Turk J Pediatr Dis [Internet]. 2022 Nov. 30 [cited 2025 May 24];16(6):551-4. Available from: https://turkjpediatrdis.org/article/view/842

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[ref1] Gomella TL, Eyal FG, Beny-Mohammed F. Common Multiple Congenital Anomalies: Syndromes, Sequences and Associations, Gomella’s Neonatology. 8th Edition, New York; Mc Graw Hill 2020;853-63.

[ref2] Oğur G. Kromozom Hastalıkları. Türkiye Klinikleri J Pediatr Sci 2011;7:13-25.

[ref3] Stanton BF, Behrman RE. Overview of Pediatrics: Kliegman, RM, Stanton FB, St Geme JW, Schor NF, Behrman RE. Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier 2016; 1-18.

[ref4] Dalton ME, De Chemet AH. Prenatal Diagnosis. N Eng J Med 1993; 328:114-20.

[ref5] Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P ve ark. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases. BMC Pediatr 2015;15:95.

[ref6] Nguyen LT, Fleishman R, Flynn E, Prasad R, Moulick A, Mesia CI, ve ark. 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring. Clin Case

[ref7] Rep 2017;11;5:351-6.

[ref8] Ulualp SO, Wright CG, Roland PS. Temporal bone histopathologic findings in partial trisomy 13 and partial trisomy 14. Int J Pediatr Otorhinolaryngol 2005 ;69:781-9.

[ref9] Nazmy N, Elhady G, Refaat E, Kholeif S. Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome. Turk J Pediat 2019; 61:780-5.

[ref10] Bose D, Krishnamurthy V, Venkatesh KS, Aiyaz M, Shetty M, Rao SN, et al. Molecular Delineation of Partial Trisomy 14q and Partial Trisomy 12p in a Patient with Dysmorphic Features, Heart Defect and Developmental Delay. Cytogenet Genome Res 2015;145:14–8.

[ref11] Gupta N, Dalvi R, Koppaka N, Mandava S. Balanced Reciprocal Translocation: Multiple Chromosome Rearrangements in an Infertile Female. J Hum Reprod Sci 2019;12:72-4.

[ref12] Güneş SÖ, Kara N, Ökten G, Taşdemir HA, Türkeli Sezer Ö, Yiğit S, ve ark. Familial t(1;17)(p34;q25) Balanced Translocation Carrier With Mental Retardation and Epilepsy Cases: Scientific Letter. Turkiye Klinikleri J Med Sci 2008;28:83-6.

[ref13] Balcı A, Yirmibeş M, Bal F, Mutgan S, Menevşe S. Ailesel resiprokal translokasyon ve tekrarlayan düşükler. Perinataloji Dergisi 1996; 4: 218-9.

[ref14] Franssen MTM, Korevaar JC, van der Veen F, Leschot NJ, Bossuyt PMM, Goddjin M. Reproductive outcome after chromosome analysis in couples with two or more miscaariages: case-control study. BMJ 2006; 332: 759-63.

[ref15] Bacino CA, Lee B, Cytogenetics: Kliegman, RM, Stanton FB, St Geme JW, Schor NF, Behrman RE, Nelson Textbook of Pediatrics, 20th ed, Philadelphia: Elsevier, 2016; 604-27.

[ref16] Biçer M, Bezircioğlu İ, Karcı L, Bayazıt S, Baloğlu A. Amniyosentez ile Prenatal Tanı: 315 Olgunun Değerlendirilmesi. Turkiye Klinikleri J Gynecol Obst 2007;17:163-7.