نتایج جستجو برای: chromosomal abnormalities

تعداد نتایج: 143206  

Journal: :JPMA. The Journal of the Pakistan Medical Association 2003
M Azim A H Khan Z L Khilji J A Pal M Khurshid

OBJECTIVE To analyze the chromosomal abnormalities in couples with history of recurrent abortions. DESIGN Retrospective study. SETTING Cytogenetic section, Department of Pathology at the Aga Khan University Hospital, Karachi, Pakistan. PATIENTS Three hundred couples with history of recurrent abortions. MAIN OUTCOME MEASURE Structural chromosomal abnormalities in carrier couples. RESUL...

Journal: :Archives of Iranian medicine 2013
Usha R Dutta Rajitha Ponnala Vijaya Kumar Pidugu Ashwin B Dalal

BACKGROUND The aim of the present study was to investigate the chromosomal abnormalities and to identify the most prevalent or frequent type of chromosomal abnormalities in cases of amenorrhea from the southern region of India. METHODS A total of 637 cases with amenorrhea were analyzed using G- banding, C-banding, Silver staining, and fluorescence in situ hybridization was done wherever neces...

2016
Ellen Schatorjé Michiel van der Flier Mikko Seppänen Michael Browning Megan Morsheimer Stefanie Henriet João Farela Neves Donald Cuong Vinh Laia Alsina Anete Grumach Pere Soler-Palacin Thomas Boyce Fatih Celmeli Ekaterini Goudouris Grant Hayman Richard Herriot Elisabeth Förster-Waldl Markus Seidel Annet Simons Esther de Vries

BACKGROUND Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known examples of Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study. METHODS All members of the Euro...

Akbar Safaei Mohamad Reza Farzaneh, Sadat Noori

  Background and Objective: Failure to thrive (FTT) is a sign that describes a particular problem rather than a diagnosis and explain growth failure or more advanced failure to gain weight appropriately. The aim of this study was to determine the prevalence and type of chromosomal abnormalities in patients presented with FTT. Materials and Method: One hundred FTT cases with clinical impressio...

2008
Hossein Mozdarani Anahita Mohseni Meybodi Shabnam Zari-Moradi

PURPOSE This study was conducted to determine the frequency and contribution of chromosomal abnormalities in miscarriages and in couples with recurrent in vitro fertilization/intra cytoplasmic sperm injection (IVF/ICSI) failure. MATERIALS AND METHODS A total of 221 individuals; 79 with three or more recurrent spontaneous abortions and 142 with at least three IVF/ICSI failures. Chromosomal ana...

Journal: :Genetics and molecular research : GMR 2010
M Balkan H Akbas H Isi D Oral A Turkyilmaz S Kalkanli S Simsek M Fidanboy M N Alp A Gedik T Budak

We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of ...

2014
Vasanti Arole

Keywords: chromosomal dermatoglyphics genetics infertility Polycystic ovarian syndrome PCOS Original Article Aims: To study and co-relate chromosomal abnormalities and dermatoglyphics in infertile female patients with PCOS. Method: 16 cases of PCOS and 16 normal females as controls were selected. Chromosomal study was done using whole blood culture method and GTG Banding in genetic laboratory. ...

Background & Aims: The study of karyotype in several cases is the first step in the diagnosis of genetic disorders. The purpose of this study was to investigate the karyotype of a number of individuals with a range of possible genetic disorders. Materials & Methods: This researchis a descriptive cross-sectional study. Sampling was done after obtaining necessary permissions and written consent ...

Journal: :Frontiers in Genetics 2023

Background: Chromosomal abnormalities are a major cause of early pregnancy loss. However, models synthesizing existing genetic technologies to improve outcomes lacking. We aim provide an integrated laboratory algorithm for the etiology couples who experienced Methods: Over 6-year period, 3,634 products conception (POCs) following loss were collected. The clinical from based on single nucleotide...

2005
INGRID EMERIT J. DE GROUCHY P. VERNANT P. CORONE

In this study the authors attempted to determine the frequency of the classical chromosomal syndromes as a cause of congenital heart disease and sought other cytogenetic abnormalities in patients with congenital heart disease, selected either for the presence of extracardiac abnormalities or the existence of congenital heart disease in other members of the family. Of the 275 patients whose kary...

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