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Patau syndrome

Known as: D1 Trisomy, Trisomy 13 syndrome, trisomy syndrome 13 
A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a… 
National Institutes of Health

Related topics

Related topics

7 relations
Chromosome 13 duplicationChromosome AberrationsCongenital kyphosisKlinefelter Syndrome

Broader (3)

Chromosomes, Human, Pair 13Congenital chromosomal diseaseTrisomy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Karyotypic abnormalities in myelofibrosis following polycythemia vera.
Highly Cited
1996
Highly Cited
1996
Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities
Objective To assess the relation between serum parameters and nuchal translucency in pregnancies affected by fetal aneuploidy in… 
Highly Cited
1996
Highly Cited
1996
Fetal heart rate and umbilico-placental Doppler flow velocity waveforms in early pregnancies with a chromosomal abnormality and/or an increased nuchal translucency thickness.
Fetal heart rate, umbilical artery pulsatility index, end-diastolic flow, nuchal translucency thickness and placental thickness… 
Highly Cited
1994
Highly Cited
1994
Second‐trimester maternal serum screening using alpha‐fetoprotein, human chorionic gonadotrophin, and unconjugated oestriol: Experience of a regional programme
Over a 2‐year period from January 1991 to December 1992, second‐trimester maternal serum screening for Down's syndrome using… 
Highly Cited
1994
Highly Cited
1994
Cerebellar Dysplasias in Humans: Development and Possible Relationship to Glial and Primitive Neuroectodermal Tumors of the Cerebellar Vermis
Cerebellar dysplasias are commonly found in the white matter and nodulus of the vermis in newborns and are particularly prominent… 
Review
1992
Review
1992
Cardiac histologic pathology characteristic of trisomies 13 and 21.
Review
1992
Review
1992
Correlation of cytogenetic patterns and clinicobiological features in adult acute myeloid leukemia expressing lymphoid markers.
Cytogenetic, biomolecular, and clinicopathologic features were retrospectively studied in 34 adult patients with acute… 
Highly Cited
1981
Highly Cited
1981
Long survival in trisomy-13-syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old.
The mean survival in Trisomy-13-syndrome patients is reported to be 130 days. We have diagnosed 21 cases of this syndrome in this… 
Highly Cited
1980
Highly Cited
1980
An Identical Translocation between Chromosome 1 and 7 in Three Patients with Myelofibrosis and Myeloid Metaplasia
Summary. An identical chromosome abnormality was observed in three unrelated patients with myelofibrosis and myeloid metaplasia… 
Highly Cited
1961
Highly Cited
1961
Trisomy 13-15: a clinical syndrome.
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