scholarly journals Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Daniel Xia ◽  
Chen Zhang ◽  
Va Lip ◽  
Marian Harris ◽  
Yiping Shen
Keyword(s):  
Chromosomal Microarrays

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

2020 ◽  
Vol 47 (9) ◽  
pp. 6863-6878
Author(s):  
Lucía Daniela Espeche ◽  
Andrea Paula Solari ◽  
María Ángeles Mori ◽  
Rubén Martín Arenas ◽  
María Palomares ◽  
...  
Keyword(s):  
Public Health ◽  
Intellectual Disability ◽  
Health System ◽  
Public Health System ◽  
Chromosomal Microarrays

scholarly journals What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

2019 ◽  
Vol 99 (6) ◽  
pp. 757-764 ◽  
Author(s):  
Idit Maya ◽  
Amihood Singer ◽  
Hagith Yonath ◽  
Adi Reches ◽  
Shlomit Rienstein ◽  
...  
Keyword(s):  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Chromosomal Microarrays

Chromosomal microarrays: influential players in the diagnosis of developmental disorders

2012 ◽  
Vol 9 (2) ◽  
pp. 167-169 ◽  
Author(s):  
Gokce A Toruner ◽  
James Dermody ◽  
Peter Tolias
Keyword(s):  
Developmental Disorders ◽  
Chromosomal Microarrays

Reinterpretation of Chromosomal Microarrays with Detailed Medical History

2020 ◽  
Vol 222 ◽  
pp. 180-185.e1 ◽  
Author(s):  
Midhat S. Farooqi ◽  
Shirelle Figueroa ◽  
Garrett Gotway ◽  
Jason Wang ◽  
Hung S. Luu ◽  
...  
Keyword(s):  
Medical History ◽  
Detailed Medical History ◽  
Chromosomal Microarrays

scholarly journals Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

2015 ◽  
Vol 91 (2) ◽  
pp. 189-195 ◽  
Author(s):  
Guillermo Lay-Son ◽  
Karena Espinoza ◽  
Cecilia Vial ◽  
Juan C. Rivera ◽  
María L. Guzmán ◽  
...  
Keyword(s):  
Developmental Disabilities ◽  
Congenital Anomalies ◽  
Chromosomal Microarrays ◽  
Children With Developmental Disabilities

CHROMOSOMAL MICROARRAYS: THE BENEFITS AND CHALLENGES OF INTRODUCTION INTO PRENATAL DIAGNOSIS

2010 ◽  
Vol 21 (4) ◽  
pp. 307-322
Author(s):  
LISA G SHAFFER ◽  
DAVID CHITAYAT
Keyword(s):  
Down Syndrome ◽  
Chromosome Abnormality ◽  
Genetic Disorders ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chromosome Analysis ◽  
Chorionic Villus Sampling ◽  
Ultrasound Findings ◽  
Medical Indications ◽  
Chromosomal Microarrays

Invasive prenatal testing, amniocentesis and chorionic villus sampling, has been used for over four decades to identify fetal genetic disorders. The most common test after obtaining fetal tissues is chromosome analysis, performed for a variety of medical indications including abnormal ultrasound findings, advanced maternal age and an abnormal screen for Down syndrome. About 2% of pregnancies in women over the age of 35 will show a chromosome abnormality, with trisomy 21 being the most common. In addition to Down syndrome, the most commonly observed trisomies are those of chromosomes 13 and 18. Numerical abnormalities of the sex chromosomes are also relatively common, as well as triploidy.

scholarly journals Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing

2015 ◽  
Vol 31 (5) ◽  
pp. 706-710 ◽  
Author(s):  
Gheona Altarescu ◽  
Rachel Beeri ◽  
Galit Lazer-Derbeko ◽  
Talia Eldar-Geva ◽  
Avraham Steinberg ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Risk Reduction ◽  
Genetic Risk ◽  
Chromosomal Microarrays
Sign in / Sign up

Export Citation Format

Share Document