Question explored with the scientific record
what is ip36 deletion
1p36 deletion is a genetic condition, not a vaccine injury. The question is about a chromosome deletion, not an intervention. The evidence here is about diagnosis and clinical features, not about something you choose to accept or refuse.
The evidence shows 1p36 deletion is a well-defined genomic disorder. It causes developmental delay, intellectual disability, seizures, heart defects, and distinctive facial features [1, 3, 9]. The severity varies widely. Deletion sizes range from 199 kb to 16 Mb, and bigger deletions do not always mean worse symptoms [3]. Some people have mild delays and obesity, especially when the deletion is mosaic (only in some cells) [7]. Others have severe brain and heart malformations [2, 5, 6].
The diagnosis is made by chromosomal microarray (CMA), which detects the missing piece of chromosome 1 [9, 10]. Prenatal screening can catch it, but the positive predictive value of noninvasive screening for 1p36 deletion was zero in one large study (0 of 3 screen-positive cases confirmed) [17]. That means a positive screen is very likely a false positive. Confirm with diagnostic testing.
| Finding | How common in 1p36 deletion |
|---|---|
| Developmental delay / intellectual disability | Nearly all cases [1, 3] |
| Seizures | Common [1, 3] |
| Heart defects | About 1 in 3 [9] |
| Brain abnormalities (especially ventriculomegaly) | About 2 in 3 [9] |
| Obesity / hyperphagia | Some cases, especially with distal deletions [4, 7] |
My call: 1p36 deletion is a real genetic syndrome with a clear diagnosis and variable outcomes. There is no intervention to evaluate here, only a condition to understand. Confidence: high.
Sources examined 17
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Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome
This study presents a case of a 15-year-old female with a 1p36 deletion whose clinical features overlap with those of Smith-Magenis syndrome, highlighting the diagnostic challenges and the importance of whole genome arrayCGH analysis in identifying chromosomal defects.
DOI: 10.1002/ajmg.a.33960 -
Identification of proximal 1p36 deletions using array‐CGH: a possible new syndrome
This study identifies five patients with atypical proximal interstitial deletions of chromosome 1p36, suggesting a distinct syndrome characterized by unique clinical features and cardiovascular malformations, differing from classical monosomy 1p36 syndrome.
DOI: 10.1111/j.1399-0004.2007.00876.x -
Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes
This study reviews cases of monosomy 1p36 deletion syndrome reported between 1999 and 2014 to identify correlations between the size of the deleted segment and the clinical phenotype, revealing significant variability in clinical manifestations regardless of deletion size.
DOI: 10.4238/gmr.15017942 -
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
This study of 41 patients with Prader-Willi-like features uses cytogenetic, FISH, MLPA and microsatellite methods to define 1p36 terminal deletions, identifying a small terminal deletion in one case and suggesting a distal 1p36 region (1p36.33-36.32) as a key contributor to obes…
DOI: 10.1016/j.ejmg.2006.02.001 -
Is 1p36 deletion associated with anterior body wall defects?
This study reports a second case of a 1p36 deletion associated with bladder exstrophy and ventral midline defects overlapping OEIS/pentalogy of Cantrell, supporting a possible role for 1p36 genes in BEEC development.
DOI: 10.1002/ajmg.a.37666 -
Choroid Plexus Hyperplasia and Monosomy 1p36: Report of New Findings
This case report describes an 11-year-old boy with monosomy 1p36 who presents new clinical findings of choroid plexus hyperplasia and dextrocardia, contributing to the understanding of this genetic syndrome.
DOI: 10.1177/0883073808314364 -
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome
This study reports two patients with mosaic 1p36 deletion syndrome who exhibit mild developmental delays and obesity, suggesting that the presence of both a specific deletion region and milder phenotypes may increase the risk for hyperphagia and obesity.
DOI: 10.1002/ajmg.a.36304 -
Detection of deletions in 1q25, 1p36 and 1pTEL and chromosome 17 aneuploidy in oral epithelial dysplasia and oral squamous cell carcinoma by fluorescence in situ hybridization (FISH)
This study uses fluorescence in situ hybridization (FISH) on paraffin-embedded oral lesion samples to identify deletions in 1pTEL, 1p36, and 1q25 and assess chromosome 17 ploidy in oral epithelial dysplasia (OED) and oral squamous cell carcinoma (OSCC), finding that 1pTEL deleti…
DOI: 10.1016/j.oraloncology.2021.105221 -
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review
A multicenter French study using chromosomal microarray analysis (CMA) surveyed ten newly diagnosed prenatal cases of 1p36 deletion syndrome and integrated these with published cases to show that prenatal 1p36 deletions lack specific ultrasound signs and CMA is the most effectiv…
DOI: 10.1002/pd.5498 -
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
The study develops a BAC/PAC-based array CGH microarray targeting the distal 1p36 region and demonstrates its utility by analyzing 25 well-characterized monosomy 1p36 deletions, accurately identifying copy-number changes and narrowing breakpoint locations to within ~100–300 kb, …
DOI: 10.1093/hmg/ddg230 -
Prenatal Diagnosis of a Fetus Affected with Down Syndrome and Deletion 1p36 Syndrome by Fluorescence in situ Hybridization and Spectral Karyotyping
This study reports the prenatal diagnosis of a fetus with Down syndrome and deletion 1p36 syndrome through advanced cytogenetic techniques, including fluorescence in situ hybridization and spectral karyotyping, revealing a de novo translocation involving chromosomes 1 and 21.
DOI: 10.1159/000077965 -
Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome
The correspondence critiques the conclusions of Arndt et al. regarding the role of PRDM16 haploinsufficiency in cardiomyopathy associated with 1p36 deletion syndrome, arguing that the available genetic data do not support this claim.
DOI: 10.1016/j.ajhg.2013.11.016 -
The use of genomic microarrays to study chromosomal abnormalities in mental retardation
This review describes how genomic microarrays (array CGH) enable rapid, genome-wide detection of chromosomal abnormalities in mental retardation, detailing methodologies, applications to known MR syndromes, subtelomeric deletions, and idiopathic cases, and outlining future direc…
DOI: 10.1002/mrdd.20082 -
Molecular Cloning and Expression Analysis of Five Novel Genes in Chromosome 1p36
The study identifies five novel human genes located in the neuroblastoma-associated chromosome 1p36 region, characterizes their cDNA structures and expression patterns, and maps their genomic positions, highlighting potential tumor-suppressor roles in neuroblastoma.
DOI: 10.1006/geno.1997.5186 -
Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma
This study reports a case of a child with developmental delay and facial dysmorphy who developed neuroblastoma at 1 month of age, revealing a constitutional de novo subtelomeric 1p36 deletion and a complex 1p36.3 deletion/duplication rearrangement.
DOI: 10.1016/j.ejmg.2008.06.004 -
On-target toxicity limits the efficacy of CDK11 inhibition against cancers with 1p36 deletions
The study demonstrates that CDK11 kinase activity is essential for cancer cell viability via RNA splicing and transcriptional regulation, identifies 1p36 deletions as a biomarker predicting sensitivity to CDK11 inhibition, introduces MEL-495R as an orally bioavailable CDK11 inhi…
DOI: 10.1101/2025.08.03.668359 -
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
A large prospective Chinese cohort study evaluating NIPS-Plus, an expanded noninvasive prenatal screening test, for simultaneous detection of common fetal aneuploidies and genome-wide microdeletion/microduplication syndromes, showing high PPVs for trisomies and DiGeorge syndrome…
DOI: 10.1038/s41436-019-0467-4