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Isodicentric chromosome 15 syndrome — Clinical Guidelines

Overview

Isodicentric chromosome 15 syndrome (idic(15)) is characterized by the presence of extra genetic material from chromosome 15 due to an isodicentric chromosome, leading to developmental delay, intellectual disability, epilepsy, and autistic behavior. 6

Diagnosis

Cytogenetic Analysis: Identification of the isodicentric chromosome 15 through karyotyping or fluorescence in situ hybridization (FISH). 6

Clinical Features: Early central hypotonia, developmental delay, intellectual disability, epilepsy, and autistic behavior are hallmark signs. 6

Incidence: Estimated at 1 in 30,000 live births with nearly equal sex distribution. 6

Management

Supportive Care: Focus on early intervention programs including physical, occupational, and speech therapy tailored to developmental delays. 6

Seizure Management: Antiepileptic drugs (AEDs) such as valproate, levetiracetam, or lamotrigine, based on seizure type and response. 6

Behavioral Interventions: Applied Behavior Analysis (ABA) and other behavioral therapies to address autistic behaviors. 6

Special Populations

Pediatrics: Early intervention is crucial for improving developmental outcomes. 6

Comorbidities: Management of comorbidities like epilepsy and behavioral issues requires multidisciplinary care. 6

Key Recommendations

Genetic Counseling: Essential for families post-diagnosis to understand implications and support options. (Evidence: Expert opinion 2)

Early Intervention Programs: Initiate comprehensive developmental support programs early in life to mitigate developmental delays. (Evidence: Moderate 6)

Multidisciplinary Approach: Employ a team including neurologists, geneticists, psychologists, and therapists for comprehensive care. (Evidence: Expert opinion 2)

References

1 Khanani H, Mansoor N, Jabbar N. Philadelphia Chromosome Positive B-lymphoblastic Leukemia in an Infant. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2021. link 2 So PL, Cheng YKY, Cheuk KY, Chiu WK, Mak SL, Mok SL et al.. Health professionals' involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2019. link 3 Ono T, Okuma M, Hamada T, Motohashi N, Moriyama K. A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2010. link 4 Kapoor T. Tarun Kapoor: in the right position to study chromosomes. Interview by Caitlin Sedwick. The Journal of cell biology 2009. link 5 Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A et al.. Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location. Clinical genetics 2009. link 6 Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet journal of rare diseases 2008. link 7 Chang JT, Chiu PC, Chen YY, Chao MC, Hsieh KS. 49, XXXXY syndrome with severe vesico-ureteral reflux and hydronephrosis: report of one case. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2005. link 8 O'Sullivan BJ, Murphy A, Asghar M. Duplication (12p) syndrome--a family. Irish medical journal 1995. link 9 Jenderny J, Caliebe A, Beyer C, Grote W. Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype. Journal of medical genetics 1993. link 10 MacDermot KD, Jack E, Cooke A, Turleau C, Lindenbaum RH, Pearson J et al.. Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks. Human genetics 1990. link 11 Zhang FR, Heilig R, Thomas G, Aurias A. A one-step efficient and specific non-radioactive non-fluorescent method for in situ hybridization of banded chromosomes. Chromosoma 1990. link 12 Milunsky JM, Wyandt HE, Milunsky A. Emerging phenotype of duplication (7p): a report of three cases and review of the literature. American journal of medical genetics 1989. link 13 Martsolf JT, Larson L, Jalal SM, Wasdahl WA, Miller R, Kukolich M. Complete trisomy 17p a relatively new syndrome. Annales de genetique 1988. link 14 Delattre O, Bernard A, Malfoy B, Marlhens F, Viegas-Pequignot E, Brossard C et al.. Studies on the human chromosome 3 centromere with a newly cloned alphoid DNA probe. Human heredity 1988. link 15 Amar LC, Dandolo L, Hanauer A, Cook AR, Arnaud D, Mandel JL et al.. Conservation and reorganization of loci on the mammalian X chromosome: a molecular framework for the identification of homologous subchromosomal regions in man and mouse. Genomics 1988. link90006-7) 16 Smith BS, Pettersen JC. An anatomical study of a duplication 6p based on two sibs. American journal of medical genetics 1985. link 17 Martin NJ, Steinberg BG. The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly. American journal of medical genetics 1983. link 18 Martin NJ, Harvey PJ, Pearn JH. The ring chromosome 13 syndrome. Human genetics 1982. link 19 Suskov II, Sazonova LA. Cytogenetic effects of epoxy, phenolformaldehyde and polyvinylchloride resins in man. Mutation research 1982. link90134-8) 20 Léonard A, Decat G, Léonard ED, Lefèvre MJ, Decuyper LJ, Nicaise C. Cytogenetic investigations on lymphocytes from workers exposed to vinyl chloride. Journal of toxicology and environmental health 1977. link

Isodicentric chromosome 15 syndrome