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5p13.2

A chromosome band present on 5p
National Institutes of Health

Related topics

Related topics

5 relations
Chromosome 5 Short ArmChromosomesNIPBL wt AlleleOSMR wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature
With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker… 
2018
2018
Genomic Changes in Pediatric Renal Transplant Patients Detected by aCGH
Introduction Acute and chronic allograft rejection are major problems in kidney transplantation. Identifying differences among… 
2017
2017
Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome
The chromosome 5p13.2 duplication syndrome [1] is a rare genetic syndrome caused by trisomy of the short-arm of chromosome 5. The… 
2017
2017
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned… 
2016
2016
Selected gene polymorphisms effect on skin and hair pigmentation in Polish children at the prepubertal age.
SUMMARY Background: Human pigmentation, similarly as many other biological features, changes in the course of post-natal… 
2015
2015
Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).
2012
2012
Neonatal detection of 5p13.2 duplication and delineation of the phenotype
A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had… 
2009
2009
Prenatal diagnosis of partial trisomy 14q (14q31.1-->qter) and partial monosomy 5p (5p13.2-->pter) associated with polyhydramnios, short limbs, micropenis and brain malformations.
The fetus was the 1096-g product of 28-week gestation in a 31-yearold, gravida 2, para 1, mother who had undergone amniocentesis… 
2005
2005
Expression of a novel alternative transcript of the novel retinal pigment epithelial cell gene NORPEG in human testes.
AIM To identify a novel alternative transcript of the novel retinal pigment epithelial cell gene (NORPEG) expressed in the human… 
2004
2004
Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array‐CGH
We report on a 14‐year‐old boy who presented with bilateral cleft lip and palate, hearing loss, a language processing disorder… 
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