Partial trisomy 15: a rare occurrence
DOI:
https://doi.org/10.18203/2349-3291.ijcp20190748Keywords:
Arachnocamptodactyly, Dysmorphic features, Partial duplication 15q, Trisomy chromosome 15qAbstract
Partial trisomy 15q is a very rare entity and most of them are characterized by duplication of regions 15q21-15q26.3. This duplication is frequently associated with deletions in another chromosome resulting in unbalanced translocations. Authors report here, a rare case of partial trisomy 15, with breakpoints between 15q11.1 to q23, probably the first reported case with these breakpoints. Irrespective of the breakpoints, the phenotypic features are consistent in all affected cases and predominantly consist of craniofacial anomalies. In addition, finger abnormalities, very short neck, skeletal malformations and congenital heart disease may be present. Our neonate had typical dysmorphic features of arachnocamptodactyly, narrow face, large prominent, nose with broad nasal bridge, long philtrum, pointed chin, short neck, and low set deformed ears. Neonates’ cytogenetic analysis revealed additional chromosomal material on the long arm of the chromosome 15 from q11.1 to q23.1, which was suggestive of partial trisomy of chromosome 15. Most cases reported have had a stormy clinical course, however, our proband had only mild respiratory distress at birth and she was discharged in a few days.
Metrics
References
Fujimoto A, Towner JW, Ebbin AJ, Kahlstrom EJ, Wilson MG. Inherited partial duplication of chromosome No. 15. J Med Genetics.1974;11(3):287-91.
Zollino M, Tiziano F, Di Stefano C, Neri G. Partial duplication of the long arm of chromosome 15: confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome. Am J Med Genet. 1999;87(5):391-4.
Kim EY, Kim YK, Kim MK, Jung JM, Jeon GW, Kim HR, et al. A case of de novo duplication of 15q24-q26.3. Korean J Pediatr. 2011;54(6):267-1.
Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, et al. Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. Eur J Hum Genet EJHG. 2002;10(11):699-706.
Castel Y, Rivière D, Boycly JY, Toudic L. Partial trisomy 15q due to maternal translocation t (7; 15) (q35; 14). In Annales Genetics. 1976;19(1):15-19.
Power MM, Barry RG, Cannon DE, Masterson JG. Familial partial trisomy 15. Ann Genet. 1977;20(3):159-65.
Parker CE, Alfi OS. Partial trisomy of chromosome 15. Lancet Lond Engl. 1972;1(7759):1073.
Bucher W, Parker CE, Crandall B, Alfi OS. Partial trisomy of chromosome 15. Lancet Lond Engl. 1973;1(7814):1250.
Bannister DL, Engel E. A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange. J Pediatr. 1975;86(6):916-7.
Wisniewski L, Hassold T, Heffelfinger J, Higgins JV. Cytogenetic and clinical studies in five cases of inv dup (15). Human Genetics.1979;50(3):259-70.
Pfeiffer RA, Kessel E. Partial trisomy 15q1. Human Genetics. 1976;33(1):77-83.
Rita G, Daniele DB, Anna C, Annamaria B, Pasqua DM, Pasquale DC, et al. Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype. Am J Med Genetics Part A. 2004;128(4):422-8.
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004;41(4):241-8.
Van Allen MI, Siegel-Bartelt J, Feigenbaum A, Teshima IE. Craniosynostosis associated with partial duplication of 15q and deletion of 2q. Am J Med Genet. 1992;43(4):688-92.
Tatton‐Brown K, Pilz DT, Örstavik KH, Patton M, Barber JC, Collinson MN, et al. 15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q. Am J Med Genetics Part A. 2009;149(2):147-54.
Roggenbuck JA, Mendelsohn NJ, Tenenholz B, Ladda RL, Fink JM. Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature. Am J Med Genet A. 2004;126A(4):398-402.
Cohen MM, Ornoy A, Rosenmann A, Kohn G. An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15. Ann Genet.1975;18(2):99-103.
Kristoffersson U, Bergwall B. Partial trisomy 15(q25qter) in two brothers. Hereditas. 1984;100(1):7-10.
Cox DM, Butler MG. Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities. Cytogenet Genome Res. 2015;145(1):29-34.