Microtriplication 11q24.1

Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 21617255
 Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.
Beneteau C, Landais E, Doco-Fenzy M, Gavazzi C, Philippe C, Beri-Dexheimer M, Bonnet C, Vigneron J, Walrafen P, Motte J, Leheup B, Jonveaux P.
J Med Genet. 2011;48(9):635-9.
Keratoconus
CLMP INVS
Adult Chromosome Aberrations Chromosomes, Human, Pair 11 Dwarfism Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Keratoconus Male MicroRNAs Overweight Phenotype
        

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000319 Smooth philtrum Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000527 Long eyelashes Very frequent (99-80%)
HP:0000563 Keratoconus Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001373 Joint dislocation Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0001762 Talipes equinovarus Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0001840 Metatarsus adductus Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002487 Hyperkinesis Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0003077 Hyperlipidemia Very frequent (99-80%)
HP:0003763 Bruxism Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006316 Irregularly spaced teeth Very frequent (99-80%)
HP:0009907 Attached earlobe Very frequent (99-80%)
HP:0011098 Speech apraxia Very frequent (99-80%)
HP:0011822 Broad chin Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0006951 Retrocerebellar cyst Frequent (79-30%)
HP:0001250 Seizures Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID