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Chromosome 1p36 Deletion Syndrome

Known as: Monosomy 1p36 syndrome, 1p36 deletion syndrome, 1p Telomere Deletion Syndrome 
A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance… 
National Institutes of Health

Related topics

Related topics

41 relations
Agenesis of corpus callosumAtrial Septal DefectsBehavior DisordersBifid uvula

Broader (3)

Chromosome DeletionChromosomes, Human, Pair 1Congenital chromosomal disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
[Chromosome 1].
1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1… 
2018
2018
Cutis laxa in a patient with 1p36 deletion syndrome
Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique… 
2018
2018
A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome
We describe the case of a premature male neonate diagnosed with biliary atresia who was found to have chromosome 1p36 deletion… 
2012
2012
Morbid obesity in a child with monosomy 1p36 syndrome
The monosomy 1p36 syndrome is a cause of syndromic obesity. It is characterised by psychomotor delay, hypotonia and typical… 
2011
2011
Severe lysosomal storage disease of liver in del(1)(p36): a new presentation.
2011
2011
Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome
Smith–Magenis syndrome (SMS; OMIM 182290) is a complexdisorder with an estimated incidence of approximately1:15,000–25,000 births… 
2005
2005
1p36 deletion syndrome with intestinal malrotation and annular pancreas
Sir: Chromosome 1p36 deletion syndrome is a common, recently recognised chromosome deletion syndrome, characterised by moderate… 
2005
2005
FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome
Rearrangements in the distal region of the short arm of chromosome 1 are recurrent aberrations in a broad spectrum of human… 
Review
2004
Review
2004
Prenatal Diagnosis of a Fetus Affected with Down Syndrome and Deletion 1p36 Syndrome by Fluorescence in situ Hybridization and Spectral Karyotyping
Objective: A fetus having partial trisomy of the distal part of chromosome 21q due to a de novo translocation is reported here… 
2001
2001
Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome.
We report on a 10-year-old boy presenting with obesity, moderate mental retardation, large anterior fontanelle at birth, mild… 
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