نتایج جستجو برای: monosomy x

تعداد نتایج: 624158  

Journal: :Journal of medical genetics 1985
H Rivera S A González-Flores F Rivas J Sánchez-Corona M Moller J M Cantú

Two unrelated patients with monosomy 13q32.3----qter are reported. Comparison with six similar cases previously published indicates that the craniofacial dysmorphism of the 13qter monosomy syndrome is related to band 13q34, the thumb hypoplasia to band 13q32, and an apparently different phenotype to band 13q33. Coagulation deficiency appears to be non-specific in monosomy 13qter.

Journal: :Obstetrics and gynecology 2012
Diana W Bianchi Lawrence D Platt James D Goldberg Alfred Z Abuhamad Amy J Sehnert Richard P Rava

OBJECTIVE To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal aneuploidy from maternal plasma. METHODS Blood samples were collected in a prospective, blinded study from 2,882 women undergoing prenatal diagnostic procedures at 60 U.S. sites. An independent biostatistician selected all singleton pregnancies with any abnormal karyo...

Journal: :Obstetrics and gynecology 2014
Eugene Pergament Howard Cuckle Bernhard Zimmermann Milena Banjevic Styrmir Sigurjonsson Allison Ryan Megan P Hall Michael Dodd Phil Lacroute Melissa Stosic Nikhil Chopra Nathan Hunkapiller Dennis E Prosen Sallie McAdoo Zachary Demko Asim Siddiqui Matthew Hill Matthew Rabinowitz

OBJECTIVE To estimate performance of a single-nucleotide polymorphism-based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on single venopuncture. METHODS One thousand sixty-four maternal blood samples from 7 weeks of gestation and beyond were included; 1,051 were within specifications and 518 (49.3%) were low risk. Cell-free DNA was amplified, sequence...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2006
Elaine M Sloand Agnes S M Yong Shakti Ramkissoon Elena Solomou Tullia C Bruno Sonnie Kim Monika Fuhrer Sachiko Kajigaya A John Barrett Neal S Young

Granulocyte colony-stimulating factor (GCSF) administration has been linked to the development of monosomy 7 in severe congenital neutropenia and aplastic anemia. We assessed the effect of pharmacologic doses of GCSF on monosomy 7 cells to determine whether this chromosomal abnormality developed de novo or arose as a result of favored expansion of a preexisting clone. Fluorescence in situ hybri...

B Eckert, M Izadyar, P Shayan,

Objective: To study whether the generated CD1a positive cells belong to the leukemic cells among patients with juvenile myelomonocytic leukemia. Materials and Methods: We used mononuclear cells from 3 patients with juvenile myelomonocytic leukemia, from which two had monosomy 7. The mononuclear cells from these patients were cultured in RPMI/10%FCS without adding exogeneous growth factors fo...

2014
Susana Fernandes Alberto Barros

Turner syndrome is a chromosomal disorder characterized by the presence of a single normal X chromosome in women. Additionally to the X chromosome monosomy, other cell lines can co-exist, containing the Y chromosome or part of it. The presence of Y chromosome in patients with Turner syndrome represents an increased risk (1530%) of developing gonadoblastoma. In this study we screened for the abs...

Journal: :Genetic testing and molecular biomarkers 2015
Anna-Maria Denes Kerstin Landin-Wilhelmsen Yvonne Wettergren Inger Bryman Charles Hanson

In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear ce...

2013
Sarah Ramamurthy Parkash Chand Latha Chaturvedula K. Ramachandra Rao

AIM This study aims at evaluating the chromosomal abnormalities and deoxyribonucleic acid (DNA) damage in cases with primary amenorrhea by karyotyping and comet assay. STUDY DESIGN A total of 30 cases of primary amenorrhea were recruited. Secondary sexual characters were assessed by Tanner staging. Chromosomal analysis was performed by conventional phytohemagglutinin stimulated lymphocyte cel...

Journal: :Orphanet Journal of Rare Diseases 2008

Journal: :Human reproduction update 2002
T Laml O Preyer W Umek M Hengstschlager H Hanzal

This review presents the genetic disorders associated with premature ovarian failure (POF), obtained by Medline, the Cochrane Library and hand searches of pertinent references of English literature on POF and genetic determinants cited between the year 1966 and February 2002. X monosomy or X deletions and translocations are known to be responsible for POF. Turner's syndrome, as a phenotype asso...

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