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Chromosome 1p36 Deletion Syndrome
Known as:
Monosomy 1p36 syndrome
, 1p36 deletion syndrome
, 1p Telomere Deletion Syndrome
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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…
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National Institutes of Health
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Related topics
Related topics
41 relations
Agenesis of corpus callosum
Atrial Septal Defects
Behavior Disorders
Bifid uvula
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Broader (3)
Chromosome Deletion
Chromosomes, Human, Pair 1
Congenital chromosomal disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Liver Transplantation in a Patient with 1p36 Deletion Syndrome
Ashesh P. Shah
,
J. Fenkel
,
Zachary E. Daitch
2020
Corpus ID: 219008338
1p36 deletion syndrome is a rare, genetic disorder often affecting neurological, cardiac, renal, and physical development…
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2017
2017
Array CGH-based Detection and Characterization of Combined 1p36 Deletion and 22q13 Duplication in a Boy and a Fetus from a Single Family
Z. Yi
,
H. Pan
,
+4 authors
Y. Qi
2017
Corpus ID: 212546903
Purpose: 1p36 deletion syndrome is the most common terminal deletion syndrome, with an incidence of 1/5,000 newborns. But 22q13…
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Review
2016
Review
2016
Monosomy 1 p 36 syndrome : reviewing the correlation between deletion sizes and phenotypes
C. Rocha
,
R. B. Vasques
,
S. Santos
,
C. Paiva
2016
Corpus ID: 11613682
The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and…
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Review
2015
Review
2015
ReviewEpilepsy and chromosomal abnormalities
G. Sorge
,
A. Sorge
2015
Corpus ID: 30942711
Background: Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological…
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2014
2014
Atypical Presentation of Juvenile Rheumatoid Arthritis in a Patient with Monosomy 1p36
David C. Tapscott
,
A. Patwardhan
2014
Corpus ID: 73099010
Monosomy 1p36 is a congenital genetic disorder characterized by moderate to severe global developmental and growth delay, hearing…
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2014
2014
Deletions in Two Cases with Thalassemia
P. De
,
S. Chakravarty
,
A. Chakravarty
2014
Corpus ID: 55308289
Summary: Terminal deletions in the short arm of chromosome one are generally associated with characteristic phenotype with…
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2014
2014
1 p 36 Microdeletion Syndrome : A Case Report
P. Akkus
,
Y. Sahin
,
E. Utine
,
K. Boduroğlu
2014
Corpus ID: 56108163
1p36 deletion syndrome is one of the most common microdeletion syndromes with an estimated prevalence of 1 in 5000. A 3-year-old…
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2011
2011
Chromosome 1p36 deletion syndrome: a report on 4 cases
Cristina Candeias
,
M. M. Freitas
,
+8 authors
Maria da Luz Fonseca da Silva
2011
Corpus ID: 85924736
Review
2009
Review
2009
An investigation of sociability : delineating a behavioural and social phenotype for Monosomy 1p36 Deletion Syndrome.
F. Cook
2009
Corpus ID: 141286881
There is a substantial body of research indicating that compromised social functioning for individual with intellectual…
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