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1p36 deletion syndrome wikipedia jump to content main menu main menu move to sidebar hide navigation main page contents current events random article about wikipedia contact us contribute help learn to edit community portal recent changes upload file special pages search search appearance donate create account log in personal tools donate create account log in contents move to sidebar hide top 1 signs and symptoms toggle signs and symptoms subsection 1 1 developmental and behavioral 1 2 neurologic 1 3 vision 1 4 distinct facial features 1 5 other congenital defects 1 5 1 skeletal 1 5 2 heart 2 genetics 3 diagnosis 4 treatment 5 epidemiology 6 references 7 external links toggle the table of contents 1p36 deletion syndrome 13 languages العربية bosanski deutsch ελληνικά español suomi français italiano nederlands polski português türkçe tiếng việt edit links article talk english read edit view history tools tools move to sidebar hide actions read edit view history general what links here related changes upload file permanent link page information cite this page get shortened url switch to legacy parser print export download as pdf printable version in other projects wikimedia commons wikidata item appearance move to sidebar hide from wikipedia the free encyclopedia medical condition 1p36 deletion syndrome other names monosomy 1p36 a toddler showing facial symptoms of the syndrome differential diagnosis rett syndrome angelman syndrome prader willi syndrome frequency 1 in 5 000 to 1 in 10 000 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability delayed growth hypotonia seizures limited speech ability malformations hearing and vision impairment and distinct facial features the symptoms may vary depending on the exact location of the chromosomal deletion 1 the condition is caused by a genetic deletion loss of a segment of dna on the outermost band on the short arm p of chromosome 1 it is one of the most common deletion syndromes the syndrome is thought to affect one in every 5 000 to 10 000 births 2 signs and symptoms edit there are a number of signs and symptoms characteristic of monosomy 1p36 but no one individual will display all of the possible features in general children will exhibit failure to thrive and global delays 3 developmental and behavioral edit most young children with 1p36 deletion syndrome have delayed development of speech and motor skills speech is severely affected with many children learning only a few words or having no speech at all behavioral problems are also common and include temper outbursts banging or throwing objects striking people screaming episodes and self injurious behavior wrist biting head striking banging a significant proportion of affected people are on the autism spectrum and many exhibit stereotypy 3 4 neurologic edit most people with 1p36 deletion syndrome have some structural abnormality of the brain and approximately half have epilepsy or other seizures 4 3 almost all children exhibit some degree of hypotonia 5 common structural brain abnormalities include agenesis of the corpus callosum cerebral cortical atrophy gait abnormalities and ventriculomegaly dysphagia esophageal reflux and other feeding difficulties are also common 3 vision edit the most common visual abnormalities associated with 1p36 deletion syndrome include farsightedness hypermetropia myopia nearsightedness and strabismus cross eyes less common but still recognized are blepharophimosis cataracts ocular albinism optic atrophy optic disk pallor and optic nerve coloboma 3 distinct facial features edit the facial features of 1p36 deletion syndrome have been considered to be characteristic although few patients have been diagnosed solely on the basis of facial appearance these features may include microcephaly small head which may be combined with brachycephaly short head small deep set eyes straight eyebrows epicanthal folds a broad flat nose and nasal bridge underdevelopment of the midface midface hypoplasia a long philtrum pointed chin and abnormally shaped rotated low set ears 4 infants may have a large anterior fontanelle or the anterior fontanelle may close late 6 other congenital defects edit skeletal edit short feet brachydactyly short fingers and camptodactyly permanent flexion of a finger fifth finger clinodactyly abnormal curvature and other skeletal anomalies are sometimes found in conjunction with 1p36 deletion 5 heart edit these patients may have congenital heart defects ranging from cardiac septal defects to valvular anomalies and tetralogy of fallot in particular some of the patients may have lv noncompaction a form of dilated cardiomyopathy this form of lv noncompaction cardiomyopathy is thought to be related to the deletion of the gene casz1 this gene in mice leads to ventricular noncompaction 7 8 genetics edit 1p36 deletion syndrome is caused by the deletion of the most distal light band of the short arm of chromosome 1 5 human chromosome 1 the breakpoints for 1p36 deletion syndrome have been variable and are most commonly found from 1p36 13 to 1p36 33 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere the size of the deletion ranges from approximately 1 5 million base pairs to greater than 10 million 9 most deletions in chromosome 1p36 are de novo mutations 20 of patients with 1p36 deletion syndrome inherit the disease from one parent who carries a balanced or symmetrical translocation 4 diagnosis edit 1p36 deletion syndrome is usually suspected based on the signs and symptoms and confirmed by fluorescence in situ hybridization fish 10 chromosomal microarray or karyotype analysis may also be used to diagnose 1p36 deletion 5 treatment edit there is no cure for 1p36 deletion syndrome and treatment is focused on relieving symptoms of the disease of particular importance are appropriate medication for endocrine and neurologic manifestations such as anti seizure medications feeding difficulties can be managed with specialized assistive devices or with a gastrostomy feeding tube 3 epidemiology edit 1p36 deletion syndrome is the most common terminal deletion syndrome in humans 6 it occurs in between 1 in 5000 and 1 in 10000 live births 4 only 100 cases have been reported between 1981 and 2015 disputed discuss 11 the genetic and rare disease information center at the national institutes of health reports fewer than 200 000 people in the united states are living with this disorder 12 references edit chromosome 1 1p36 deletion syndrome wrongdiagnosis retrieved 2009 05 25 1p36 deletion syndrome orphanet retrieved 28 june 2022 1 2 3 4 5 6 chromosome 1p36 deletion syndrome genetic and rare diseases information center gard an ncats program rarediseases info nih gov archived from the original on 20 september 2018 retrieved 19 september 2018 1 2 3 4 5 1p36 deletion syndrome genetics home reference nih 1 2 3 4 battaglia agatino june 6 2013 1p36 deletion syndrome retired chapter for historical reference only in adam margaret p ardinger holly h pagon roberta a wallace stephanie e eds genereviews university of washington seattle pmid 20301370 retrieved 2019 02 20 1 2 omim entry 607872 chromosome 1p36 deletion syndrome www omim org retrieved 19 september 2018 jordan valerie k zaveri hitisha p scott daryl a august 27 2015 1p36 deletion syndrome an update the application of clinical genetics 8 informa uk limited 189 200 doi 10 2147 tacg s65698 issn 1178 704x pmc 4555966 pmid 26345236 pierpont mary ella brueckner martina chung wendy k garg vidu lacro ronald v mcguire amy l mital seema priest james r pu william t roberts amy ware stephanie m gelb bruce d russell mark w 20 november 2018 genetic basis for congenital heart disease revisited circulation 138 21 e653 e711 doi 10 1161 cir 0000000000000606 issn 0009 7322 pmc 6555769 pmid 30571578 heilstedt heidi a ballif blake c howard leslie a lewis richard a stal samuel kashork catherine d bacino carlos a shapira stuart k shaffer lisa g 2003 physical map of 1p36 placement of breakpoints in monosomy 1p36 and clinical characterization of the syndrome the american journal of human genetics 72 5 1200 1212 doi 10 1086 375179 pmc 1180272 pmid 12687501 chromosome 1p36 deletion syndrome genetics testing reference retrieved 2019 02 20 bello sabina rodríguez moreno antonio 2016 09 01 una revisión actualizada del síndrome de deleción monosomía 1p36 revista chilena de pediatría in spanish 87 5 411 421 doi 10 1016 j rchipe 2015 12 004 issn 0370 4106 pmid 26875550 an abstract in english language is published bello s rodríguez moreno a 2016 02 12 an updated review of 1p36 deletion monosomy syndrome revista chilena de pediatria 87 5 411 421 doi 10 1016 j rchipe 2015 12 004 pmid 26875550 dollemore doug jul 11 2023 genetic mutation could identify individuals at risk of cardiovascular death among patients with rare disease university of utah health university of utah retrieved 21 may 2025 external links edit classification d omim 607872 online mendelian inheritance in man omim 616975 mesh c535362 diseasesdb 34535 snomed ct 699306003 external resources gard 1p36 deletion syndrome radiopaedia 56295 orphanet 1606 scholia q3297103 retrieved from https en wikipedia org w index php title 1p36_deletion_syndrome oldid 1338211525 categories autosomal monosomies and deletions syndromes with intellectual disabilities syndromes with seizures syndromes with craniofacial abnormalities genetic anomalies syndromes affecting the eye syndromes with microcephaly syndromes affecting the heart syndromes affecting hearing hidden categories articles with short description short description is different from wikidata all accuracy disputes articles with disputed statements from september 2024 cs1 spanish language sources es this page was last edited on 13 february 2026 at 20 55 utc page was rendered with parsoid text is available under the creative commons attribution sharealike 4 0 license additional terms may apply by using this site you agree to the terms of use and privacy policy wikipedia is a registered trademark of the wikimedia foundation inc a non profit organization privacy policy about wikipedia disclaimers contact wikipedia legal safety contacts code of conduct developers statistics cookie statement mobile view search search toggle the table of contents 1p36 deletion syndrome 13 languages add topic