Analisis Dismorfologi, Sitogenetik dan Tingkat IQ pada Penderita Retardasi Mental di SLB Kecamatan Semin Kabupaten Gunung Kidul  

Oleh:

Gozali, Paulus Anwar ; Sultana, MH Faradz ; Siswandari, Wahyu

Jenis: Article from Journal - ilmiah nasional
Dalam koleksi: Mandala of Health (A Scientific Journal) vol. 04 no. 01 (Jan. 2010), page 18-25.
Topik: Fragile X syndrome; cytogenetics; dysmorphology; mental retardation; IQ

Ketersediaan

Perpustakaan FK Nomor Panggil: M50.K.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Mental retardaton (MR) is a disease that has heterogeneity in clinical feature with multifactorial aetiology. MR classification is based on degree of cognitive finction abnormality that measure by intelligence Quotient (IQ). Fragile X syndrome is one of the most common cause of MR after Down Prevalence of Fragile X syndrome in Indonesia is about 2% of MR population. In RM population, prevalence of Fragile X Syndrome in male is more than 5,9%, in women is about 0,3%. Genetic abnormality including chromosomal anomaly often can be marked by congenital physical abnomlity. This study was to determine IQ level, cytogenetic abnormality and dysmorphology of MR patients. Study & sign was an cross sectional study. Research subjects group were 22 students of SLB Dharma Putra Semin Gunung Kidul, Yogyakarta Study variable were IQ level measured by Weschler method, karotyping was performed by Low Folat Media TC 199 and MEM+thymidin Measured physical morphology were height, body weight, ear wide and length, head circumference, Outer Canthal Distance (OCD), Inner Canthal Distance (ICD), Inter Pupillary Distance (IPD), palm wide and length, plantar wide and length, testis volume (measured by Prader Orchictometer) and penis length. Karyotype analysis was shown: 46, Yfra(X)(q27.3) were 9 cases (41%), 45,X/46,,XY were I case (4,5%), 47,=+21 were I case (4,5%), 46,XY were 6 cases (27,3%) and 46,XY were 5 cases (22,7%). All patients with Fragile-X syndrome were cathgorized as moderate MR, 1 case with normal hptype (46,XY) was cathegorized as mild MR Since normal reference is not available, the present of dysmorphology can not be concluded We conclude that the most common kcnyotype abnormality in MR was Fragile-X syndrome, and all patients with Fragile-X syndrome were cathegorized as moderate MR. The present of dymoiphology can not be concluded.

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