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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.
2020
2020
Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report
2019
2019
Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis
Abstract Objective To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21… 
2015
2015
Two Cases of Klinefelter Syndrome Identified by Quantitative Fluorescence PCR ( QF-PCR ) Method
Chromosomal aneuploidy is a common cause of genetic abnormality in humans and leading cause of pregnancy loss and congenital… 
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. 
2005
2005
Genetic Disorders: Newborn With Multiple Anomalies
He was born to a 33-year-old woman (gravida 1) at 35 weeks gestational age via emergency cesarean delivery secondary to decreased… 
Review
1997
Review
1997
Central diabetes insipidus in a newborn with deletion of chromosome 7q
Abstract: We report an infant with midline craniofacial defects and holoprosencephaly due to chromosome 46, XY, del (7) (pter… 
1997
1997
[Low birth weight as an additional indication for chromosomal analysis].
INTRODUCTION Even though there are few epidemiological studies evaluating the birth weights of different groups of malformed… 
Review
1996
Review
1996
Holoprosencephaly and chromosomal anomalies.
Holoprosencephaly is a rare cerebral malformation resulting from failure or incomplete cleavage of the forebrain. The sonographic… 
1985
1985
Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis.
We examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their… 
1980
1980
[Postaxial polydactyly: a symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46, XX, t (22;13) (q13;q31) and 46, XY, Dup (13) (pter-q34::q22-qter) (author's transl…
Postaxial polydactyly represents an important manifestation of distal (partial) trisomy 13. We report on 2 patients with… 
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