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chromosome 1p36 deletion syndrome · Vinony

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Autosomal monosomies and deletions
chromosome 1p36 deletion syndrome

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EntityQ3297103· pop 15· linked from 116 articles

chromosome 1p36 deletion syndrome

Also known as deletion 1p36, monosomy 1p36, 1p36 deletion syndrome, subtelomeric 1p36 deletion, Monosomy 1pter, Del(1)(p36), Monosomy 1P36 Syndrome

Human disease

Research

84 papers

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.American journal of medical genetics. Part A · 2023
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.American journal of human genetics · 2021
Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations.Journal of pediatric genetics · 2023
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.Prenatal diagnosis · 2019
Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2021

Wikidata facts

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Connections

Categories

Autosomal monosomies and deletions Genetic anomalies Syndromes affecting hearing Syndromes affecting the eye Syndromes affecting the heart Syndromes with craniofacial abnormalities Syndromes with intellectual disabilities Syndromes with microcephaly Syndromes with seizures

Sources

wikipedia.externallinksexternallink

Image

Facial Features of a Child with 1p36 Deletion Syndromel.png

Show 5 more facts

Commons category: 1p36 deletion syndrome
NCI Thesaurus ID: C74983
exact match: www.orpha.net/ORDO/Orphanet_1606
ICD-9-CM: 758.39
external data available at URL: www.nanbyou.or.jp/entry/4495

Sources (5)

wikidata.org
registry.identifiers.org
ddrare.nibiohn.go.jp
web.archive.org
es.wikipedia.org

via Wikidata · CC0

via Wikidata sitelinks · CC0

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intellectual disability

gastroesophageal reflux disease

genetic disease

Medical Subject Headings

congenital disorder

Online Mendelian Inheritance in Man

Diseases Database

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