Monosomy 18p

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.



Input patient's signs and symptoms


Narrow down the case reports



Total: 66 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(70.5%)		 11170097
 Familial Del(18p) syndrome.
Tsukahara M, Imaizumi K, Fujita K, Tateishi H, Uchida M.
Am J Med Genet. 2001;99(1):67-9.
Wide mouth Micrognathia Short finger
Adult Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 18 Developmental Disabilities Females Homo sapiens Infant Syndrome
2
(63.5%)		 12838568
 Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?
Wieczorek D, Bartsch O, Gillessen-Kaesbach G.
Am J Med Genet A. 2003;120A(3):429-33.
Micrognathia Telecanthus
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 20 Cytogenetic Analysis Developmental Disabilities Facies Fluorescent in Situ Hybridization Homo sapiens Male Trisomy
3
(63.5%)		 14708108
 Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation.
Babovic-Vuksanovic D, Jenkins SC, Ensenauer R, Newman DC, Jalal SM.
Am J Med Genet A. 2004;124A(3):318-22.
Round face Small hand
Adult Chromosome Deletion Chromosomes, Human, Pair 18 Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Male Paranoid Schizophrenia Phenotype
4
(60.5%)		 16052867
 An unusual case of monosomy 18p: minor malformations with speech delay.
Bora E, Giray O, Ulgenalp A, Ozkan H, Ercal D.
Turk J Pediatr. 2005;47(2):199-201.
Open mouth Micrognathia
Child, Preschool Chromosomes, Human, Pair 18 Fluorescent in Situ Hybridization Homo sapiens Language Development Disorders Male Monosomy
5
(59.0%)		 21848017
 A rare case of monosomy 18p: translocation between chromosomes 18 and 21.
Tos T, Karaman A, Aycan Z, Tukun A.
Genet Couns. 2011;22(2):227-31.
Round face Micrognathia
Child Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 21 Cytogenetics Females Fluorescent in Situ Hybridization Homo sapiens Monosomy
5
(59.0%)		 16691587
 Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.
Wester U, Bondeson ML, Edeby C, Anneren G.
Am J Med Genet A. 2006;140(11):1164-71.
Broad face Micrognathia
Adult Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 18 Females Fluorescent in Situ Hybridization Genotype Homo sapiens Infant Male Phenotype Short Tandem Repeat
5
(59.0%)		 11755103
 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype.
Rao VB, Kerketta L, Korgaonkar S, Ghosh K, Mohanty D.
Ann Genet. 2001;44(4):187-90.
Micrognathia Large forehead
ENDOU
Chromosome Aberrations Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 18 Congenital Heart Defects Craniofacial Abnormalities Homo sapiens Infant Intellectual Disability Male Syndrome Testis Tonic-Clonic Epilepsy
5
(59.0%)		 9826899
 Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence.
Chen CP, Chern SR, Lee CC, Town DD.
Prenat Diagn. 1998;18(10):1068-74.
Micrognathia High forehead
Adult Chromosomes, Human, Pair 18 Females Fetal Diseases Fetal Growth Retardation Genetic Markers Homo sapiens Isochromosomes Pregnancy Ultrasonography, Prenatal Urinary Bladder
5
(59.0%)		 6705263
 Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture.
de France HF, Beemer FA, Senders RC, Gerards LJ, Cats BP.
Clin Genet. 1984;25(3):295-9.
Micrognathia Large beaked nose
Adult Chromosome Banding Chromosomes, Human, 16-18 Chromosomes, Human, 6-12 and X Females Homo sapiens Infant Lymphocyte Male Psychomotor Disorders Trisomy
10
(58.9%)		 2651671
 Sibs with tetrasomy 18p born to a mother with trisomy 18p.
Takeda K, Okamura T, Hasegawa T.
J Med Genet. 1989;26(3):195-7.
Microcephaly Micrognathia Tapered finger
Adult Aneuploidy Child, Preschool Chromosome Banding Chromosomes, Human, Pair 18 Females Fetal Death Homo sapiens Leg Length Inequality Microcephaly Pregnancy Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 38

HPO ID Term Frequency
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0000668 Hypodontia Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000248 Brachycephaly Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000465 Webbed neck Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000670 Carious teeth Frequent (79-30%)
HP:0000692 Misalignment of teeth Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0000822 Hypertension Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0002751 Kyphoscoliosis Frequent (79-30%)
HP:0006610 Wide intermamillary distance Frequent (79-30%)
HP:0100625 Enlarged thorax Frequent (79-30%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000708 Behavioral abnormality Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0001004 Lymphedema Occasional (29-5%)
HP:0001360 Holoprosencephaly Occasional (29-5%)
HP:0001596 Alopecia Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002960 Autoimmunity Occasional (29-5%)
HP:0007325 Generalized dystonia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 34

HPO ID Term # of case reports
HP:0001250 Seizures 3
HP:0001332 Dystonia 3
HP:0032152 Keratosis pilaris 3
HP:0040075 Hypopituitarism 3
HP:0000311 Round face 2
HP:0000316 Hypertelorism 2
HP:0004373 Focal dystonia 2
HP:0010880 Increased nuchal translucency 2
HP:0000027 Azoospermia 1
HP:0000050 Hypoplastic male external genitalia 1
HP:0000133 Gonadal dysgenesis 1
HP:0000154 Wide mouth 1
HP:0000278 Retrognathia 1
HP:0000286 Epicanthus 1
HP:0000343 Long philtrum 1
HP:0000348 High forehead 1
HP:0000465 Webbed neck 1
HP:0000470 Short neck 1
HP:0000508 Ptosis 1
HP:0000821 Hypothyroidism 1
HP:0000824 Growth hormone deficiency 1
HP:0000969 Edema 1
HP:0001123 Visual field defect 1
HP:0001337 Tremor 1
HP:0002072 Chorea 1
HP:0002162 Low posterior hairline 1
HP:0002311 Incoordination 1
HP:0004322 Short stature 1
HP:0005280 Depressed nasal bridge 1
HP:0010628 Facial palsy 1
HP:0011436 Abnormal maternal serum screening 1
HP:0012819 Myocarditis 1
HP:0040195 Decreased head circumference 1
HP:0200055 Small hand 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID