نتایج جستجو برای: trisomy

تعداد نتایج: 5061  

Journal: :Blood 1993
T H Que J G Marco J Ellis E Matutes V B Babapulle S Boyle D Catovsky

Fluorescence in situ hybridization (FISH) with a chromosome 12 specific alpha-centromeric probe was performed on interphase cells from 183 patients with B-cell chronic lymphocytic leukemia (CLL). Twenty one cases with trisomy 12 (11.5%) were detected. The number of trisomic cells ranged from 5.5% to 76% (mean 38.5%). No correlation was found between the presence of trisomy 12 and white blood ce...

Journal: :Journal of Medical Genetics 1971

Journal: :Fetal diagnosis and therapy 2009
Ismini Staboulidou Alberto Galindo Nerea Maiz George Karagiannis Kypros H Nicolaides

OBJECTIVE We examined the potential value of the uterine artery pulsatility index (PI) in pregnancies with fetal aneuploidies and in those that developed preeclampsia (PE) with the aim of distinguishing between these complications in pregnancies with low pregnancy-associated plasma protein-A (PAPP-A). METHODS Uterine artery PI and serum PAPP-A at 11-13 weeks were measured in 165 cases of PE, ...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 1996
R Y Wang P Troncoso J L Palmer A K El-Naggar J C Liang

Smear preparations from fine-needle aspirates of 30 prostatic carcinomas obtained from radical prostatectomy specimens were examined by a dual-color fluorescence in situ hybridization (FISH) method for the presence of chromosome 7 trisomy (chromosome 9 was used as a control). The frequency of cells with trisomy 7 was determined in tumor cells and normal prostatic epithelial cells in each specim...

2015
Ashley P. Ng Yifang Hu Donald Metcalf Craig D. Hyland Helen Ierino Belinda Phipson Di Wu Tracey M. Baldwin Maria Kauppi Hiu Kiu Ladina Di Rago Douglas J. Hilton Gordon K. Smyth Warren S. Alexander

Down syndrome (DS), with trisomy of chromosome 21 (HSA21), is the commonest human aneuploidy. Pre-leukemic myeloproliferative changes in DS foetal livers precede the acquisition of GATA1 mutations, transient myeloproliferative disorder (DS-TMD) and acute megakaryocytic leukemia (DS-AMKL). Trisomy of the Erg gene is required for myeloproliferation in the Ts(1716)65Dn DS mouse model. We demonstra...

Journal: :Blood 1993
M S Watson A J Carroll J J Shuster C P Steuber M J Borowitz F G Behm D J Pullen V J Land

Of 1,036 children with newly diagnosed non-T, non-B acute lymphoblastic leukemia (ALL) and a demonstrated cytogenetic abnormality treated on the frontline Pediatric Oncology Group (POG) therapeutic trial 8602, there were 33 patients with trisomy 21 as the sole abnormality. Of these 33, 14 had Down syndrome (DS). Although the non-DS (NDS) trisomy 21 cases tended to be older than the DS cases, th...

2014
Maj A. Hultén Linn Öijerstedt Erik Iwarsson Jon Jonasson

It has now been over 50 years since it was discovered that Down syndrome is caused by an extra chromosome 21, i.e., trisomy 21. In the interim, it has become clear that in the majority of cases, the extra chromosome is inherited from the mother, and there is, in this respect, a strong maternal age effect. Numerous investigations have been devoted to clarifying the underlying mechanism, most rec...

2011
Rossa W K Chiu Ranjit Akolekar Yama W L Zheng Tak Y Leung Hao Sun K C Allen Chan Fiona M F Lun Attie T J I Go Elizabeth T Lau William W K To Wing C Leung Rebecca Y K Tang Sidney K C Au-Yeung Helena Lam Yu Y Kung Xiuqing Zhang John M G van Vugt Ryoko Minekawa Mary H Y Tang Jun Wang Cees B M Oudejans Tze K Lau Kypros H Nicolaides Y M Dennis Lo

OBJECTIVES To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. DESIGN Diagnostic accuracy validated against full karyotyping, using prospectively collected or archived maternal plasma samples. SETTING Pre...

2009
Kotb A Metwalley Hekma S Farghalley Alaa A Abd-Elsayed

INTRODUCTION Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18. The association between trisomy 18 and congenital hydrocephalus is very rare. CASE PRESENTATION A 4-month-old male Egyptian baby boy was referred to Assiut University hospital for evaluation of his large...

Journal: :Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2007
T Y Leung L W Chan T N Leung T Y Fung D S Sahota K Spencer T K Lau

OBJECTIVE To examine the effectiveness of first-trimester fetal trisomy 21 screening using a combination of maternal age, nuchal translucency thickness (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) levels in a predominantly Chinese population in Hong Kong. METHODS This was a prospective study over a 1.5-year period...

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