A marker chromosome in a case with mental motor retardation and correlation with the clinical findings
Öz
Mental retardation is a complex clinical entity diagnosed in early age period with motor retardation in some cases. Mental retardation affects about 1-3% of the population. Several etiologic factors may cause the mental retardation, but in one/forth of them, the etiologic factors can be explained. Here we presented a three year old female case with dysmorphic face findings that had speech/learning disability, walking problems because of stereotypic movements, nervousness. In cytogenetic analyses, an extra marker chromosome had been observed which was absent in her parents. In the literature, the origin of such marker chromosomes had been reported with chromosome 15 and X. No relationship was observed between our marker chromosome and chromosome 15 or X in fluorescence in situ hybridization analyses by using centromeric probes in our case. Genetic diseases may cause mental motor retardation. In some cases, chromosomal abnormalities can bee seen. Despite of these findings, the clinical diagnosis of our case and the origin of this extra marker chromosome have still been obscure Consequently, the clinical abnormalities observed in our case may be correlated with this extra chromosome obtained in cytogenetic analyses. As a result, our case represents the importance of the genetic tests in mental motor retardation history.
Anahtar Kelimeler
Mental motor retardation marker chromosome mental retardation dysmorphology FISH analyses.
Kaynakça
- Petersen MC, Kube DA, Palmer FB. Classification of developmental delays.Semin Pediatr Neurol. 1998; 5: 2-14.
- Muthugovindan D, Singer H. Motor stereotypy disorders.Curr Opin Neurol. 2009; 22:131-6.
- Pratt HD, Greydanus DE. Intellectual disability (mental retardation) in children and adolescents. Prim Care. 2007; 34: 375-86.
- Connor M, Ferguson-Smith M. Essential Medical Genetics. 5th Ed. Blackwell Science. 1997, pp125-26.
- Oldak M, Waligora J, Gieruszczak-Bialek D, Skorka A, Bocian E, Brycz-Witkowska J, Stankiewicz P, Korniszewski L. Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker. Genet Couns. 2006;17: 29-34.
- J.A. Crolla, S.A. Youings, S. Ennis, P.A. Jacops. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revised, Eur. J. Hum. Genet. 2005; 13: 154–60.
- Yunis, J.J. New chromosome techniques in the study of human neoplaia. Human Pathol 1981; 1: 540-9.
- Seabright, M. Improvement of tyripsin method for banding chromosomes Lancet 1973; 1: 1249. 9. CEP X/Y DNA Probe http://www.abbottmolecular.com/CEPXSpectrumOrangeYSpectrumGreenDirectLabeled FluorescentDNAProbeKit_5572.aspx (16 Mart 2010 tarihinde ulaşıldı) sitesi:
- Jones, KL. Down syndrome. In: Jones, KL, eds. Smith's Recognizable Patterns Of Human Malformation. 6th Ed. New York: Elsevier Inc, 2006, 7-12.
- Mancardi GL, Di Rocco M, Schenone A, Veneselli E, Doria M, Abbruzzese M, Tabaton M, Borrone C. Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. J Neurol Sci. 1992; 110: 121-30
- Koc A, Yirmibes Karaoğuz M, Pala E, Kan D, Karaer K, Gücüyener K, Percin EF. A boy with small supernumerary marker chromosome X identified by FISH. Genet Couns 2007; 18: 393-9.
- Huang B, Bartley J. Partial hexasomy of chromosome 15. Am J Med Genet 2003; 121A: 277-80.
- T. Liehr, U. Claussen, H. Starke, Small supernumerary marker chromosomes (sSMC) in humans, Cytogenet.Genome Res. 2004; 107: 55–67.
- Mrózek K. Cytogenetic, molecular genetic, and clinical characteristics of acute myeloid leukemia with a complex karyotype. Semin Oncol. 2008; 35: 365-77.
- Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet. 2003; 114: 51-67.
Psikomotor gerilik ile refere edilen bir olguda saptanan marker kromozom ve klinik bulgularla korelasyonu
Öz
Zeka geriliği erken yaşta tanı konan bazı olgularda motor geriliğin de eşlik ettiği karışık ve kompleks bir hastalıktır. Zeka geriliği toplumda %1-3 oranında görülmektedir. Zeka geriliğine yol açan birçok faktör sıralanabilir ancak olguların sadece dörtte birinde etyoloji ortaya konabilmektedir. Yazımızda konuşma/öğrenme güçlüğü, sterotipik hareketler nedeni ile yürümede zorluk, sinirlilik şikayetleri bulunan dismorfik yüz görünümlü 3 yaşında bir kız çocuğu sunulmaktadır. Olgunun sitogenetik analizinde anne ve babasında olmayan fazla bir markır kromozom saptanmıştır. Literatürde bu tür markır kromozomların genellikle 15 ve X kromozomuna ait olduğu bildirilmektedir. 15 ve X kromozomuna ait sentromerik problar kullanılarak yapılan “fluorescence in situ hybridization” analizinde olgumuzdaki markır kromozomun her iki kromozomdan da köken almadığı tespit edilmiştir. Genetik hastalıklar psikomotor gerilik nedenleri içinde yer alır. Bunlara bazen kromozom anomalileri eşlik eder. Tüm bulgulara rağmen, olgumuzda özgün bir genetik tanıya gidilememiş ve markır kromozomun hangi kromozoma ait olduğu tespit edilememiştir. Ancak yine de olguda saptanan anomaliler ile sitogenetik analizde elde edilen bu ekstra kromozom arasında ilişki kurulabilir. Sonuç olarak olgumuz psikomotor gerilik bulunan olgularda etyolojik faktörü ortaya koymak için genetik testlerin ne denli önemli olduğunu göstermektedir.
Anahtar Kelimeler
Psikomotor gerilik markır kromozom zeka geriliği dismorfoloji FISH analizi
Kaynakça
- Petersen MC, Kube DA, Palmer FB. Classification of developmental delays.Semin Pediatr Neurol. 1998; 5: 2-14.
- Muthugovindan D, Singer H. Motor stereotypy disorders.Curr Opin Neurol. 2009; 22:131-6.
- Pratt HD, Greydanus DE. Intellectual disability (mental retardation) in children and adolescents. Prim Care. 2007; 34: 375-86.
- Connor M, Ferguson-Smith M. Essential Medical Genetics. 5th Ed. Blackwell Science. 1997, pp125-26.
- Oldak M, Waligora J, Gieruszczak-Bialek D, Skorka A, Bocian E, Brycz-Witkowska J, Stankiewicz P, Korniszewski L. Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker. Genet Couns. 2006;17: 29-34.
- J.A. Crolla, S.A. Youings, S. Ennis, P.A. Jacops. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revised, Eur. J. Hum. Genet. 2005; 13: 154–60.
- Yunis, J.J. New chromosome techniques in the study of human neoplaia. Human Pathol 1981; 1: 540-9.
- Seabright, M. Improvement of tyripsin method for banding chromosomes Lancet 1973; 1: 1249. 9. CEP X/Y DNA Probe http://www.abbottmolecular.com/CEPXSpectrumOrangeYSpectrumGreenDirectLabeled FluorescentDNAProbeKit_5572.aspx (16 Mart 2010 tarihinde ulaşıldı) sitesi:
- Jones, KL. Down syndrome. In: Jones, KL, eds. Smith's Recognizable Patterns Of Human Malformation. 6th Ed. New York: Elsevier Inc, 2006, 7-12.
- Mancardi GL, Di Rocco M, Schenone A, Veneselli E, Doria M, Abbruzzese M, Tabaton M, Borrone C. Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. J Neurol Sci. 1992; 110: 121-30
- Koc A, Yirmibes Karaoğuz M, Pala E, Kan D, Karaer K, Gücüyener K, Percin EF. A boy with small supernumerary marker chromosome X identified by FISH. Genet Couns 2007; 18: 393-9.
- Huang B, Bartley J. Partial hexasomy of chromosome 15. Am J Med Genet 2003; 121A: 277-80.
- T. Liehr, U. Claussen, H. Starke, Small supernumerary marker chromosomes (sSMC) in humans, Cytogenet.Genome Res. 2004; 107: 55–67.
- Mrózek K. Cytogenetic, molecular genetic, and clinical characteristics of acute myeloid leukemia with a complex karyotype. Semin Oncol. 2008; 35: 365-77.
- Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T. Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet. 2003; 114: 51-67.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 11 Haziran 2010 |
| Yayımlandığı Sayı | Yıl 2010Cilt: 32 Sayı: 2 |