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.
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 Rep 2017;11;5:351-6.
- 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.
- Göktolga Ü, Korkmaz C, Bahçe M, Ceyhan ST, Keskin U, Başer İ. Preimplantasyon Genetik Tanı: GATA Sonuçları. Gülhane Tıp Dergisi 2007; 49: 245-9.
Abstract
Bu yazıda intrauterin gelişme geriliği, dismorfik yüz bulguları ve konjenital kalp anomalisine sahip bir yenidoğanda tespit edilen kısmi trizomi 14 ve kısmi trizomi 22 vakası tartışılmıştır. Canlı doğumlarda konjenital anomali görülme sıklığı %2-6 olup, bunların %60-80’inden genetik nedenlerin sorumlu olduğu düşünülmektedir. Kromozomal değişiklikler, konjenital anomalilerin %25-35’inde görülür. Resiprokal translokasyonlar, bu kromozomal yeniden düzenlemelerin en yaygın nedenidir. Yapılan incelemelerde hastanın tekrarlayan düşük öyküsüne sahip ebeveynlerinde 46, XY t(14;22) (q24;q11.2) dengeli resiprokal translokasyon taşıyıcılığı tespit edilmiştir. Bu gibi durumlarda ebeveynlere genetik danışmanlık sağlamak ve sonraki gebelikler için doğum öncesi tanı seçeneklerini tartışmak oldukça önemlidir.
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 Rep 2017;11;5:351-6.
- 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.
- Göktolga Ü, Korkmaz C, Bahçe M, Ceyhan ST, Keskin U, Başer İ. Preimplantasyon Genetik Tanı: GATA Sonuçları. Gülhane Tıp Dergisi 2007; 49: 245-9.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | CASE REPORTS |
| Authors | |
| Publication Date | November 30, 2022 |
| Submission Date | May 17, 2021 |
| Published in Issue | Year 2022 Volume: 16 Issue: 6 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.