İlknur EROL, Özge SÜRMELİ ONAY, Zerrin YILMAZ, Özge ÖZER, Füsun ALEHAN, Feride ŞAHİN

22q13.3 Delesyon Sendromu: Mental Retardasyonun Az Tanınan Bir Nedeni

Phelan-McDermid sendromu olarak da bilinen 22q13.3 delesyon sendromu, global gelişme geriliği, gecikmiş ve gelişmemiş konuşma, jenaralize hipotoni ve minör fiziksel anomaliler ile karekterizedir. Delesyon tipik olarak 22q13.3'ün terminal bandını içermekte ve ailesel veya denova translokasyon ile ilişkilidir. Bu yazıda 11 yaşında, Rubella enfeksiyonu esnasında tekrarlayan nöbetlerle başvurduğu sırada 22q13.3 delesyon sendromu tanısı konulan bir türk kız hasta sunulmuştur. Ayrıca 22q13.3 delesyon sendromun klinik bulgularıda derlenerek, karyotip analizi normal olan idyopatik mental retardasyonu olan olgularda microdelesyon sendromlarının önemine dikkat çekilmiştir. Bilgilerimiz dahilinde, bu olgu ilk izole 22q13.3 delesyon sendromu olan Türk hastadır.

22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome

Keywords:

22q13.3 deletion syndrome, Aphasia, Epilepsy, Mental retardation,

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1. Phelan MC, Rogers RC, Saul RA, et al. 22q13 deletion syndrome. Am J Med Genet. 2001;101: 91- 9.
2. Havens JM, Visootsak J, Phelan MC, Graham JM Jr. 22q13 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr. 2004;43:43-53.
3. Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome. J Med Genet. 1985;22:283-7.
4. Wilson HL, Wong AC, Shaw SR, et al. "Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms". J. Med. Genet. 2003;40:575–84.
5. Verma RS, Babu A. Human chromosomes. In: Verma and Babu A (eds). Tissue Culture Techniques and Chromosome Preparation. McGraw-Hill, New York, 1995;6-71.
6. Phelan MC, Rogers RC, Stevenson RE. A de novo terminal deletion of 22q. Am J Hum Genet. 1988;43:A118.
7. Nesslinger NJ, Gorski JL, Kurczynski TW, et al. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet. 1994;54:464-72.
8. Anderlid BM, Schoumans J, Annerén G, et al. FISHmapping of a 100-kb terminal 22q13 deletion. Hum Genet. 2002;110:439-43.
9. Herman GE, Greenberg F, Ledbetter DH. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am J Med Genet. 1988;29:909-15.
10. Precht KS, Lese CM, Spiro RP, et al. Two 22q telomere deletions serendipitously detected by FISH. J Med Genet. 1998;35:939-42.
11. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet. 1995;9:132-40.
12. Ghariani S, Dahan K, Saint-Martin C, Kadhim H, Morsomme F, Moniotte S et al. Polymicrogyria in chromosome 22q11 deletion syndrome. Eur J Paediatr Neurol. 2002;6:73-7.
13. Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol. 2007;14:136-9.
14. Koç A, Karaer K, Ergün MA, et al. A case with a ring chromosome 22. Turk J Pediatr. 2008;50:193-6