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Journal : biomedical engineering

Cytogenetics profile of student with syndromic mental retardation on special schools in Banjarmasin Siti Wasilah; Husnul Khatimah; Tri Indah Minarni
Biomedical Engineering Vol 2, No 1 (2016)
Publisher : Biomedical Engineering

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Abstract

Objective:  This descriptive study aims to describe the cytogenetic profile of students with mental retardation disorders on special school in Banjarmasin conducted since 2012-2013.Material and methods:  Cytogenetic profile described based the existence of free trisomy 21, trisomy 21 with translocation, mosaic trisomy 21 and trisomy 21 partially or in the form of numeric aberration and structure of chromosomal abnormalities such as fragile X, specific deletions of chromosomal segments or the presence of a ring chromosome forms.Result:  The results obtained from the study of 22 students with physical signs of mild to severe syndromic mental retardation. The results of cytogenetic examination showed most of the sample (77.78%) with free trisomy 21 (karyotype 47, XX, + 21 or 47, XX, + 21) or a classic type of Down syndrome, 1 sample with mosaic karyotype: 46, XY (1%) / 47, XY, + 21, 1 sample with structural abnormalities of chromosomes 22 (karyotype: 46, XY, ring 22) and 2 samples with normal karyotype (karyotype: 46, XY or 46, XX).Conclusion:  Cytogenetic profile of students with syndromic mental retardation on special school in Banjarmasin are free trisomy 21, mosaic trisomy 21, structure aberration (ring chromosome 22), and a normal karyotype.
Co-Authors Afif Fakhri Agung Biworo Akhmad Riandy Agusta Alfi Yasmina Alvince Stevani Lase Alvince Stevani Lase Amelia, Helna Arganita, Fidya Rahmadhany Arietama, George Asnawati Asnawati Aulia Saputra Bayu Indra Sukmana Budi Wiweko Darin Aminatul Ramliah Dea Afrila Dewi Nurdiana Didik Dwi Sanyoto Dina Aulia Fakhrina, Dina Aulia Dwi Anita Suryandari Dwi Wahyu Candra Dewi Edyson Edyson Edyson Edyson Eka Putri Widyarti Eka Yudha Rahman Erida Widyamala Fachriyad, Muhammad Fahrina Ulfah Fakhrurrazy Fakhrurrazy Farida Heriyani Farida Heriyani Fauzan Muttaqien Fitria Salsabella Gelvia Awaeh Hafizhah, Ghina Helmayanti . Ida Yuliana Ida Yuliana Ika Kustiyah Oktaviyanti Ikrimah Irfan Maulana Irfan Maulana, Irfan Isnaini Isnaini Istiana Istiana Jumadi Jumadi Kalila Shahwa Noor Rahman Khusnan Mustofa Gufron Laksono Trisnantoro Lena Rosida Lena Rosida Leny Marlindawati5 Lia Yulia Budiarti M Zakiyuddin Mahdian Mahdian Mahdian Mahdian Mala Kurniati Melinda Hairi, Melinda Mohamad Nor Aufa Muhammad Farhan6 Muhammad Kasyful Anwar Muna Muna Muthmainah, Noor Muthmainnah, Noor Mutiah . Mutttaqien, Fauzan Namira Kamelia Putri Nindya Dhifa Fortuna Noor Sifa Qolbu Novi Alisa Nur Asyifa Rohainy Nuriyafini . Nurkamaliya . Panghiyangani, Roselina Parham Saadi Parham Saadi Putri Ayu Silviana Raden Abyuta Wiksa Pranandhira Rahmiati Rahmiati Raihana Nafisa Putri Rangga Adhitya Nayu Raudhatun Naimah Rayatul Aminah Retno Septiana Ananda, Retno Septiana Ridhoni, Muhammad Zaki Riena Maulida Rizal Iskandar Rizal Iskandar Rizkiya Novita Rosida, Lena Rosinta Dewi Achmadiyah Rosmitha Monikayani Rusmansyah Rusmansyah Salamiah . Salsabella Firqah Najiyah Shafa Rahmani Puteri Sheni Chang Sherly Limantara Sinaga, Ferdy Ricardo Siti Kaidah Siti Khairiyah Siti Wasilah Stevani . Tania Maharani Safitri Tri Indah Minarni Triawanti Triawanti