Mosaicism of Trisomy of 16 Pairs of Chromosomes with Partial Situs Inversus and Levocardia Observation of Extremely Rare Anomaly from 1st Trimester to Neonatal Period- Case Report

Open access

Abstract

This is case report of extremely rare mosaic trisomy of 16th pair of chromosomes from the high risk pregnancy (maternal age 35 years old, positive screeining in 1st trimester). The fetus presented with intrauterine growth retardation, congenital heart defect, dysmorphic features and skeletal anomalies. The case has been observed until hospitalization in pediatric cardiology department. Other similar cases have been analysed.

1. Roberts SH, Duckett DP.: Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16. Med Genet. 1978 Oct;15(5):375-81

2. Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. : Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet. 2003 Mar;40(3):175-82

3. Abaneh H, Asim M Momani, Rame H. Khasawneh.: Trisomy16 in Products of conception. Int JBiol Med Res, 2012;3(3):2196-2198

4. de Carvalho AF, da Silva Bellucco FT, dos Santos NP, Pellegrino R, de Azevedo Moreira LM, Toralles MB, Kulikowski LD, Melaragno MI.: Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival. Am J Med Genet A. 2010 Aug;152A(8):2074-8

5. Basinko A, Audebert-Bellanger S, Douet-Guilbert N, Le Franc J, Parent P, Quemener S, La Selve P, Bovo C, Morel F, Le Bris MJ, De Braekeleer M.: Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16). Am J Med Genet A. 2011 Sep;155A(9):2281-7. doi: 10.1002/ajmg.a.34162. Epub 2011 Aug 10.

6. Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F. Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature. Am J Med Genet A. 2011 Apr;155A(4):769-77. doi: 10.1002/ajmg.a.33852. Epub 2011 Mar 17.

7. Laus AC, Baratela WA, Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo CC, Squire JA, Martelli L.: Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature. Am J Med Genet A. 2012 Apr;158A(4):821-7. doi: 10.1002/ajmg.a.32988. Epub 2012 Feb 21.

8. Noruzinia M, LefortG, Chaze AM, Puechbert J, Pellestor F, Blanchet P, Cacheux V, Sarda P.: Phenotypic and cytogenetic variety of pure partial trisomy of chromosome 16p. Acta Med Iran 2009, 47(3), 233-239

9. Buckton KE, Barr DG.: Partial trisomy for long arm of chromosome 16. J Med Genet. 1981 Dec;18(6):483

10. Davison EV, Beesley JR. Partial trisomy 16 as a result of familial 16;20 translocation. J Med Genet. 1984 Oct;21(5):384-6

11. Hidaka N, Yamamoto N, Tsukimori K, Hojo S, Suzuki SO, Wake N.: Prenatal diagnosis of trisomy 16 mosaicism manifested as pulmonary artery stenosis. J Clin Ultrasound. 2009 Feb;37(2):107-11. doi: 10.1002/jcu.20499

12. Arnaoutoglou C, Meditskou S, Keivanidou A, Manthou M, Anesidis N, Assimakopoulos E, Athanasiadis A, Kumar S. Ectopia cordis in a fetus with mosaic trisomy 16. J Clin Ultrasound. 2010 Sep;38(7):386-8. doi: 10.1002/jcu.20727

13. Padmavati S, Gupta S: Partial Situs Inversus with Levocardia : An Unusual Combination of Anomalies . Circulation;1962:26:108-113

14. McCullagh BG, Kerr B, Trueman S, Tomlin PI, Thomas M, Wynn R, de Goede CG. Distinctive neurological phenotype associated with partial trisomy of chromosome. Eur J Paediatr Neurol. 2012 Aug 23. [Epub ahead of print]

15. Zerem A, Vinkler C, Michelson M, Leshinsky-Silver E, Lerman-Sagie T, Lev D. Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia. Am J Med Genet A. 2011 Dec; 155A(12):2991-6. doi: 10.1002/ajmg.a.34316. Epub 2011 Nov 3

16. Gilbertson NJ, Taylor JW, Kovar IZ. Mosaic trisomy 16 in a live newborn infant. Arch Dis Child. 1990 Apr; 65(4 Spec No):388-9. PubMed PMID: 2337367; PubMed Central PMCID: PMC1590154.

17. Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard- Peebles PN, Johnson MP, Giorgiutti E. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet. 1993 Jan;52(1):8-16. PMID: 8434609 [PubMed - indexed for MEDLINE]

18. Arakaki DT, Waxman SH. Trisomy-16 in a mosaic carrier father and his aborted foetus J Med Genet. 1969 Mar; 6(1):85-8. No abstract available.PMID:5814232 [PubMed - indexed for MEDLINE]

19. Van den Berg L, Delemarre-van de Waal H, Han JC, Yistra B, Eij P, Nesterova W, Heutink P, Stratakis CA.: Investigation of patiens with partial trisomy 16q including the Fat mass and Obesity Associated gene (FTO): Fine Mapping and FTO Gene Expression Study. Am J Med Genet, 2010, March;152A(3):630-637

20. Chen CP, Ko TM, Su YN, Hsu CY, Chen YY, Su JW, Chen WL, Pan CW, Wang W. Prenatal diagnosis of partial trisomy 16p (16p12.2 pter) and partial monosomy 22q (22q13.31 qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester. Taiwan J Obstet Gynecol. 2012 Mar;51(1):129-33. doi: 10.1016/j.tjog.2012.01.029.

Journal Information

Metrics

All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 77 76 5
PDF Downloads 32 32 0