Skip to search formSkip to main contentSkip to account menu

Chromosome 13 duplication

Known as: Trisomy 13 
A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to… 
National Institutes of Health

Related topics

Related topics

8 relations
Acute Myeloid Leukemia with Minimal DifferentiationChromosomes, Human, Pair 13Congenital kyphosisKlinefelter Syndrome

Broader (1)

Chromosome Aberrations

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies
To evaluate the application of non‐invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing in… 
Highly Cited
2014
Highly Cited
2014
Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
Cerebellar hypoplasia (CH) refers to a cerebellum with a reduced volume, and is a common, but non‐specific neuroimaging finding… 
2014
2014
Diagnostic accuracy of the BACs‐on‐Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series
To evaluate the diagnostic performance of the BACs‐on‐Beads™ (BoBs™) assay for prenatal detection of chromosomal abnormalities. 
2007
2007
Single umbilical artery and its siding in the second trimester of pregnancy: relation to chromosomal defects
To determine the possible association between single umbilical artery (SUA) in the second trimester of pregnancy and the… 
Highly Cited
2005
Highly Cited
2005
Gestational sac volume measured by three‐dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects
To determine the potential value of measuring the gestational sac volume (GSV) at 11 to 13 + 6 weeks of gestation in screening… 
Highly Cited
2004
Highly Cited
2004
First‐Trimester Sonographic Diagnosis of Holoprosencephaly
Objective. To study the value of choroid plexus dysmorphology as a screening tool for the first‐trimester sonographic diagnosis… 
Highly Cited
1999
Highly Cited
1999
Chromosomal Abnormalities in a Series of Children with Autistic Disorder
In a series of 127 children diagnosed with autistic disorder the karyotypes of 8, on whom data were available, showed the… 
1999
1999
Congenital diaphragmatic hernia: the neonatologist's perspective.
1. Krisa Van Meurs, MD* 2. Billie Lou Short, MD† 1. 2. *Associate Professor of Pediatrics, Stanford University School of… 
Highly Cited
1992
Highly Cited
1992
Ultrasonographically detectable markers of fetal chromosomal abnormalities
1979
1979
Trisomy 13 in bone marrow cells in acute myelocytic leukemia and myelofibrosis
We have identified trisomy 13 in two additional patients with hematologic malignancies involving the hematopoietic stem cell: a… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)