نتایج جستجو برای: chromosomal anomaly

تعداد نتایج: 85966  

Journal: :Annals of Saudi medicine 2005
S M Tayel M M Fawzia Niran A Al-Naqeeb Said Gouda S A Al Awadi K K Naguib

BACKGROUND Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis. PATIENTS AND METHODS...

2006
Chandrika Sreekantaiah Stanley P. L. Leong Constantine P. Karakousis Daniel L. McGee William D. Rappaport Hugo V. Villar David Neal Susan Fleming Albert Wankel Peter N. Herrington Richard Carmona Avery A. Sandberg

Cytogenetic analysis of short-term cultures was carried out on 109 lipomas from 92 patients. Clonal chromosomal abnormalities were pres ent in 50% of the tumors analyzed. Based on the results, three main Cytogenetic groups were identified and included: (a) tumors with normal karyotypes, (b) tumors with abnormalities involving region ql3-15 on chromosome 12, and (c) tumors with other clonal aber...

Journal: :Cancer research 1991
C Sreekantaiah S P Leong C P Karakousis D L McGee W D Rappaport H V Villar D Neal S Fleming A Wankel P N Herrington

Cytogenetic analysis of short-term cultures was carried out on 109 lipomas from 92 patients. Clonal chromosomal abnormalities were present in 50% of the tumors analyzed. Based on the results, three main cytogenetic groups were identified and included: (a) tumors with normal karyotypes, (b) tumors with abnormalities involving region q13-15 on chromosome 12, and (c) tumors with other clonal aberr...

Journal: :Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2014
Elena Ţarcă Petru Plămădeală Bogdan Savu

Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. Although prenatal biological and ultrasound investigations are mandatory and free and the detection rate of chromosomal abnormalities is high, the birth o...

Journal: :Italian Journal of Pediatrics 2009
Elga F Belligni Elisa Biamino Cristina Molinatto Jole Messa Mauro Pierluigi Francesca Faravelli Orsetta Zuffardi Giovanni B Ferrero Margherita Cirillo Silengo

BACKGROUND Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases. METHODS We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ...

2001
T Todros E Capuzzo P Gaglioti

Up till the early 1970s, prenatal diagnosis of congenital anomalies was primarily aimed at detecting chromosomal abnormalities by amniocentesis.1. Over the last two decades, prenatal diagnosis has greatly benefited from advances in ultrasound technology and in our ability to detect microscopic and submicroscopic chromosome abnormalities as well as single gene disorders, leading to substantive i...

2017
Chunhua Yin Jiaqi Li Quan He Sisun Liu Linsheng He

Cervical cancer is one of the most prevalent malignancies in women, which has human papillomavirus infection as the major risk factor. Here we report the establishment of a new HPV-negative cervical cancer cell line and characterization of genetic alterations relevant to the pathogenesis of cervical cancer. A new cervical cancer cell line was established by extensive culture and natural selecti...

2013
Mehmet OBUT Mehmet Siddik EVSEN Hatice Ender SOYDINC Muhammet Erdal SAK Ali OZLER Mehmet FIDANBOY Mahmut BALKAN Aysegul TURKYILMAZ Talip GUL

Objective: The aim of the present study is to evaluate etiologic factors in patients with recurrent pregnancy loss (RPL). Material and methods: The records of patients admitted to Obstetrics& Gynecology Clinic of Dicle University Medical Faculty Hospital, from 2008 to 2011 were evaluated. Of the 114 patients who all tests were applied for diagnosis in our hospital were enrolled to study. For et...

Journal: :Cancer research 1987
J S Lee S Pathak V Hopwood B Tomasovic T D Mullins F L Baker G Spitzer J A Neidhart

By using the newly developed adhesive tumor cell culture system, we analyzed the chromosomal constitutions of primary lung tumor and nonmalignant normal lung tissue from 10 previously untreated patients with non-small cell lung cancer. Chromosomal analyses were successfully carried out in banded chromosome preparations from 10 tumor and 8 normal lung tissue samples. All analyzed tumor and norma...

Journal: :archives of medical laboratory sciences 0
zahra meshkat professor; department of virology, tarbiat modares university, tehran nayere khadem ghaebi mohammad khajedaluee zahra aghili sina rostami

background: recurrent miscarriage is defined as two or more recurrent spontaneous miscarriages. several causes have been suggested, among which, chromosomal abnormalities in couples is considered to have a role in this regard. however, its significance varies among different populations. the present study was carried out to evaluate the prevalence of chromosomal aberrations in couples with recu...

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