| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (64.7%) |
21274281 (3026978) |
Cystic Dilation of the Aqueductus Sylvii in Case of Trisomy 17p11.2-pter with the Deletion of the Terminal Portion of the Chromosome 6. Horvath E, Sikovanyecz J, Pal A, Kaiser L, Balint BL, Szilard P, Kozinszky Z, Szabo J. Case Rep Med. 2010;2010:354170. |
| Micrognathia Cleft lip | ||
| 2 (39.0%) |
23078968 |
Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. Lee CG, Park SJ, Yim SY, Sohn YB. Brain Dev. 2013;35(7):681-5. |
| Dolichocephaly | ||
| Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 17 Cytogenetics Homo sapiens Male Phenotype Trisomy | ||
| 3 (4.0%) |
31066191 |
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. Varon A, Whitt Z, Kalika PM, Potocki L, Barbouth DS, Walz K. Am J Med Genet A. 2019;179(7):1366-1370. |
| Global developmental delay | ||
| Arnold Chiari Malformation Chromosomal Duplication Females Homo sapiens Infant | ||
| 3 (4.0%) |
30819258 |
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, , Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Genome Med. 2019;11(1):12. |
| Autism | ||
| Child Child, Preschool Craniofacial Abnormalities Developmental Disabilities Females Homo sapiens INDEL Mutation Infant Intellectual Disability Male Young Adult | ||
| 3 (4.0%) |
29441219 |
A New Patient with Potocki-Lupski Syndrome: A Literature Review. Pratico AD, Falsaperla R, Rizzo R, Ruggieri M, Verrotti A, Pavone P. J Pediatr Genet. 2018;7(1):29-34. |
| Autism | ||
| 3 (4.0%) |
28413209 |
Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay. Shuib S, Saaid NN, Zakaria Z, Ismail J, Abdul Latiff Z. Malays J Pathol. 2017;39(1):77-81. |
| Autism | ||
| DRG2 LLGL1 RAI1 SHMT1 SREBF1 | ||
| Autism Spectrum Disorders Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 17 Females Fluorescent in Situ Hybridization Homo sapiens Phenotype | ||
| 3 (4.0%) |
26419729 (4588678) |
17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome. Sumathipala DS, Mandawala EN, Sumanasena SP, Dissanayake VH. BMC Res Notes. 2015;8:506. |
| Autism | ||
| Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 17 Chromosomes, Human, X Females Homo sapiens Polymerase Chain Reaction | ||
| 3 (4.0%) |
24311450 |
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Am J Med Genet A. 2014;164A(2):500-4. |
| Autism | ||
| Adult Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 17 Facies Females Homo sapiens Infant Male Phenotype Young Adult | ||
| 3 (4.0%) |
23624966 |
Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. Bravo C, Gamez F, Perez R, Aguaron A, De Leon-Luis J. J Perinatol. 2013;33(5):394-6. |
| Hypoplastic left heart | ||
| Aneurysm Cardiovascular Abnormalities Chromosomal Duplication Deglutition Disorders Early Diagnosis Fatal Outcome Females Fetal Diseases Homo sapiens Hypoplastic Left Heart Syndrome Infant, Newborn Pregnancy Ultrasonography, Prenatal | ||
| 3 (4.0%) |
23255863 (3524443) |
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB. J Korean Med Sci. 2012;27(12):1586-90. |
| Intellectual disability | ||
| RAI1 | ||
| Asians Child, Preschool Chromosomal Duplication Chromosomes, Human, Pair 17 Developmental Disabilities Gene Deletion Gene Duplication Homo sapiens Intellectual Disability Male Sterol Regulatory Element Binding Protein 1 Trans-Activators |
Total: 35
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000600 | Abnormality of the pharynx | Very frequent (99-80%) |
| HP:0000717 | Autism | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001260 | Dysarthria | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0002357 | Dysphasia | Very frequent (99-80%) |
| HP:0002474 | Expressive language delay | Very frequent (99-80%) |
| HP:0002916 | Abnormality of chromosome segregation | Very frequent (99-80%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Very frequent (99-80%) |
| HP:0010529 | Echolalia | Very frequent (99-80%) |
| HP:0010535 | Sleep apnea | Very frequent (99-80%) |
| HP:0000325 | Triangular face | Frequent (79-30%) |
| HP:0000337 | Broad forehead | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000494 | Downslanted palpebral fissures | Frequent (79-30%) |
| HP:0000739 | Anxiety | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0002353 | EEG abnormality | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0007010 | Poor fine motor coordination | Frequent (79-30%) |
| HP:0008499 | High hypermetropia | Frequent (79-30%) |
| HP:0011098 | Speech apraxia | Frequent (79-30%) |
| HP:0200136 | Oral-pharyngeal dysphagia | Frequent (79-30%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0004322 | Short stature | Occasional (29-5%) |
| HP:0006482 | Abnormality of dental morphology | Occasional (29-5%) |
| HP:0010807 | Open bite | Occasional (29-5%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0004383 | Hypoplastic left heart | 3 |
| HP:0000717 | Autism | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001508 | Failure to thrive | 2 |
| HP:0000729 | Autistic behavior | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0002186 | Apraxia | 1 |
| HP:0002463 | Language impairment | 1 |
| HP:0012758 | Neurodevelopmental delay | 1 |