نتایج جستجو برای: karyotype test

تعداد نتایج: 821326  

2013
Byung Ho Choi Uk Hyun Kim Kun Soo Lee Cheol Woo Ko

PURPOSE 45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this ka...

2015
Ediz Yeşilkaya Abdullah Bereket Feyza Darendeliler Firdevs Baş Şükran Poyrazoğlu Banu Küçükemre Aydın Şükran Darcan Bumin Dündar Muammer Büyükinan Cengiz Kara Erkan Sarı Erdal Adal Ayşehan Akıncı Mehmet Emre Atabek Fatma Demirel Nurullah Çelik Behzat Özkan Bayram Özhan Zerrin Orbak Betül Ersoy Murat Doğan Ali Ataş Serap Turan Damla Gökşen Ömer Tarım Bilgin Yüksel Oya Ercan Şükrü Hatun Enver Şimşek Ayşenur Ökten Ayhan Abacı Hakan Döneray Mehmet Nuri Özbek Mehmet Keskin Hasan Önal Nesibe Akyürek Kezban Bulan Derya Tepe Hamdi Cihan Emeksiz Korcan Demir Deniz Kızılay Ali Kemal Topaloğlu Erdal Eren Samim Özen Saygın Abalı Leyla Akın Beray Selver Eklioğlu Sultan Kaba Ahmet Anık Serpil Baş Tolga Ünüvar Halil Sağlam Semih Bolu Tolga Özgen Durmuş Doğan Esra Deniz Çakır Yaşar Şen Nesibe Andıran Filiz Çizmecioğlu Olcay Evliyaoğlu Gülay Karagüzel Özgür Pirgon Gönül Çatlı Hatice Dilek Can Fatih Gürbüz Çiğdem Binay Veysel Nijat Baş Kürşat Fidancı Adem Polat Davut Gül Cengizhan Açıkel Hüseyin Demirbilek Peyami Cinaz Carolyn Bondy

OBJECTIVE Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. METHODS Our ...

Journal: :Journal of applied genetics 2005
Małgorzata Srebniak Lucyna Popowska Angelika Wawrzkiewicz-Witkowska Agnieszka Tomaszewska Wojciech Kazmierczak

A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal translocation and her partner's karyotype was found to be normal. The karyotype of the proband is 46,XX,t(4;22)(q23;q11.2) and can be regarded as a reason of fertility problems in the investigated couple. The risk of further miscarriages is high, but the risk of a ...

2013
Lorenzo Peruzzi Halil E. Eroğlu

One of the most popular, cheap and widely used approaches in comparative cytogenetics - especially by botanists - is that concerning intrachromosomal and interchromosomal karyotype asymmetry. Currently, there is no clear indication of which method, among the many different ones reported in literature, is the most adequate to infer karyotype asymmetry (especially intrachromosomal), above all in ...

Journal: :American journal of human genetics 2010
David T Miller Margaret P Adam Swaroop Aradhya Leslie G Biesecker Arthur R Brothman Nigel P Carter Deanna M Church John A Crolla Evan E Eichler Charles J Epstein W Andrew Faucett Lars Feuk Jan M Friedman Ada Hamosh Laird Jackson Erin B Kaminsky Klaas Kok Ian D Krantz Robert M Kuhn Charles Lee James M Ostell Carla Rosenberg Stephen W Scherer Nancy B Spinner Dimitri J Stavropoulos James H Tepperberg Erik C Thorland Joris R Vermeesch Darrel J Waggoner Michael S Watson Christa Lese Martin David H Ledbetter

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISC...

Journal: :Prenatal diagnosis 2011
Francesco Fiorentino Fiorina Caiazzo Stefania Napolitano Letizia Spizzichino Sara Bono Mariateresa Sessa Andrea Nuccitelli Anil Biricik Anthony Gordon Giuseppe Rizzo Marina Baldi

OBJECTIVE To assess the feasibility of offering array-based comparative genomic hybridization testing for prenatal diagnosis as a first-line test, a prospective study was performed, comparing the results achieved from array comparative genomic hybridization (aCGH) with those obtained from conventional karyotype. METHOD Women undergoing amniocentesis or chorionic villus sampling were offered a...

ژورنال: :مجله گیاهشناسی ایران 2000
حسین میرزایی ندوشن علی رضا زبرجدی قاسم کریم زاده

دوازده جمعیت از گونه bromus tomentellus که از نقاط مختلف ایران جمع آوری شده بود مورد اندازه گیریهای مختلف کروموزومی قرار گرفت. داده های حاصل از این اندازه گیری ها ابتدا در قالب طرح آماری فاکتوریل مورد تجزیه و تحلیل قرار گرفته و پس از حصول اطمینان از تفاوت های معنی دار آماری بین جمعیتها و نیز کروموزوم ها، اطلاعات حاصل مورد تجزیه و تحلیل های تکمیلی قرار گرفتند. جمعیتها از نظر ابعاد مختلف کروموزوم...

Journal: :research in cardiovascular medicine 0
tugba kemaloglu cardiology department, specialist, siyami ersek cardiovascular and thoracic surgery center, istanbul, turkey nihat ozer cardiology department, professor, memorial atasehir hospital, istanbul, turkey; cardiology department, professor, memorial atasehir hospital, istanbul, turkey. tel: +90-5334788730, fax: +90-2165706624 mehmet fikri yapici cardiovascular surgery department, specialist, memorial atasehir hospital, istanbul, turkey

conclusions the young woman with turner syndrome have several risk factors for early coronary artery disease development. in such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment. case presentation the patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. she was diagnosed wit...

2014
Aline Renneville Raouf Ben Abdelali Sylvie Chevret Olivier Nibourel Meyling Cheok Cécile Pautas Rémy Duléry Thomas Boyer Jean-Michel Cayuela Sandrine Hayette Emmanuel Raffoux Hassan Farhat Nicolas Boissel Christine Terre Hervé Dombret Sylvie Castaigne Claude Preudhomme

We recently showed that the addition of fractionated doses of gemtuzumab ozogamicin (GO) to standard chemotherapy improves clinical outcome of acute myeloid leukemia (AML) patients. In the present study, we performed mutational analysis of 11 genes (FLT3, NPM1, CEBPA, MLL, WT1, IDH1/2, RUNX1, ASXL1, TET2, DNMT3A), EVI1 overexpression screening, and 6.0 single-nucleotide polymorphism array (SNP-...

Journal: :Life sciences 2004
Adriano B L Tort Luis V Portela Maria da Purificação Tavares Carlos A Gonçalves Cristina Netto Roberto Giugliani Diogo O Souza

Down syndrome (DS) is the most common chromosomal abnormality and is associated with an extra copy of the chromosome 21. Although several markers are commonly used during pregnancy for the screening of DS, the definitive diagnosis is based on karyotype after amniocentesis, which is an expensive and laborious analysis. S100B is an astrocyte protein which had its gene mapped to the long arm of ch...

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