Ann Lab Med.  2015 Jul;35(4):474-476. 10.3343/alm.2015.35.4.474.

Isodicentric Chromosome 15 Syndrome in a Korean Patient With Cafe-au-lait Spots

• Rim JH
• Chung HJ
• Shin S
• Park SJ
• Choi JR

• KMID: 2045876
• DOI: http://doi.org/10.3343/alm.2015.35.4.474

Abstract

No abstract available.

MeSH Terms

Cafe-au-Lait Spots*
Chromosomes, Human, Pair 15*
Humans

Figure

• 

  Fig. 1 Café-au-lait spots present on the (A) upper trunk, (B) right leg, and (C) back of the patient.

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  Fig. 2 (A) The G-banded karyotype of the patient. Trypsin-Giemsa banded chromosome analysis at the 550-band level shows a marker chromosome, which is suspected to be isodicentric chromosome 15 (red arrow). A normal chromosome 15 pair is present (blue arrows). (B) Interphase FISH using the Vysis LSI tricolor SNRPN probe set (Abbott). Two aqua signals for the 15p11.2 (CEP 15) probe and one orange signal for the 15q11-q13 (SNRPN) probe indicate the presence of isodicentric chromosome 15 with region q13 affected (red arrow). The normal chromosome 15 pair shows one aqua signal, one orange signal, and one green signal (15q22, PML; blue arrows).

Reference

1. Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis. 2008; 3:30. PMID: 19019226.

2. Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, et al. Marker chromosomes in Korean patients: incidence, identification and diagnostic approach. J Korean Med Sci. 2003; 18:773–778. PMID: 14676430.

3. Kim JS, Park J, Min BJ, Oh SK, Choi JS, Woo MJ, et al. A case of isodicentric chromosome 15 presented with epilepsy and developmental delay. Korean J Pediatr. 2012; 55:487–490. PMID: 23300505.

4. Park DH, Lim S, Park ES, Sim EG. A nine-month-old boy with isodicentric chromosome 15: a case report. Ann Rehabil Med. 2013; 37:291–294. PMID: 23705128.

5. Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, et al. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014; 55:396–402. PMID: 24502430.

6. Rineer S, Finucane B, Simon EW. Autistic symptoms among children and young adults with isodicentric chromosome 15. Am J Med Genet. 1998; 81:428–433. PMID: 9754629.

7. Simic M, Turk J. Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports. Eur Child Adolesc Psychiatry. 2004; 13:389–393. PMID: 15619052.

8. Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am. 2010; 57:1131–1153. PMID: 20888463.

9. Nyström AM, Ekvall S, Strömberg B, Holmström G, Thuresson AC, Annerén G, et al. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. Acta Paediatr. 2009; 98:693–698. PMID: 19120036.

10. Rosado LAM, Mariño TC, Ávila TG, Gil JH, Martínez AB. The inv dup (15) or idic (15) syndrome: a case report. Rev Cubana Genet Comunit. 2012; 6:61–63.