Trisomy 18p

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.



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Narrow down the case reports



Total: 14 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(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
2
(58.2%)		 2335369
 Partial trisomy of chromosome 18 (pter----q12) following a familial 18;21 translocation rcp(18;21)(q12;q11).
Binkert F, Stranzinger J, Schinzel A.
Hum Hered. 1990;40(2):81-4.
Microcephaly Flexion contracture of finger Narrow palpebral fissure
Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 21 Congenital Heart Defects Face Homo sapiens Infant Intellectual Disability Male Trisomy
3
(57.8%)		 12975789
 Prenatal diagnosis of trisomy 18p and distal 21q22.3 deletion.
Chen CP, Chern SR, Lee CC, Chen LF, Chin DT, Tzen CY, Wang W.
Prenat Diagn. 2003;23(9):758-61.
Micrognathia
Adult Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 21 Differential Diagnosis Females Genetic Counseling Holoprosencephaly Homo sapiens Pregnancy Pregnancy Trimester, Second Trisomy
4
(39.0%)		 1697142
 Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.
Wilson GN, Heller KB, Elterman RD, Schneider NR.
Am J Med Genet. 1990;36(4):506-10.
Microcephaly
Child, Preschool Chromosomes, Human, Pair 18 Developmental Disabilities Homo sapiens Male Microcephaly Phenotype Trisomy
5
(4.0%)		 30939474
 Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability.
Yu Y, Jiang Y, Hu X, Zhang H, Liu R, Wang R.
Cytogenet Genome Res. 2019;157(4):220-226.
Intellectual disability
Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 18 Females Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Oligonucleotide Array Sequence Analysis Pregnancy Trisomy Young Adult
5
(4.0%)		 26042156
(4453045)
 Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.
Jedraszak G, Copin H, Demailly M, Quibel C, Leclerc T, Gallet M, Benkhalifa M, Receveur A.
Mol Cytogenet. 2015;8:34.
Azoospermia
5
(4.0%)		 23894094
 Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Plaja A, Lloveras E, Martinez-Bouzas C, Barrena B, Del Campo M, Fernandez A, Herrero M, Barranco L, Palau N, Lopez-Ariztegui MA, Catala V, Tejada MI.
Am J Med Genet A. 2013;161A(9):2363-8.
Intellectual disability
Adult Centromere Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 21 Females Fluorescent in Situ Hybridization Homo sapiens Pregnancy Trisomy
5
(4.0%)		 23232358
 Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation.
Hu H, Hao J, Yao H, Chang Q, Li R, Zhang X, Liang Z.
Gene. 2013;517(1):132-6.
Pulmonary hypoplasia
ENDOU
Adult Chromosome Deletion Chromosomes, Human, Pair 18 Fatal Outcome Females Fluorescent in Situ Hybridization Homo sapiens Male Oligonucleotide Array Sequence Analysis Pregnancy Trisomy Young Adult
5
(4.0%)		 22302461
 Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.
Schmidt B, Udink ten Cate F, Weiss M, Koehler U.
Eur J Pediatr. 2012;171(7):1047-53.
Ptosis
Chromosome Deletion Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 7 Congenital Heart Defects Females Homo sapiens Infant Infant, Newborn Male Monosomy Nondisjunction, Genetic Sibling Trisomy
5
(4.0%)		 21709416
 De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation.
Bartels E, Draaken M, Kazmierczak B, Spranger S, Schramm C, Baudisch F, Nothen MM, Schmiedeke E, Ludwig M, Reutter H.
Cytogenet Genome Res. 2011;134(3):243-8.
Anorectal anomaly
ENDOU
Chromosomes, Human, Pair 18 Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Male Rectum Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000340 Sloping forehead Very frequent (99-80%)
HP:0000377 Abnormality of the pinna Very frequent (99-80%)
HP:0000384 Preauricular skin tag Very frequent (99-80%)
HP:0000430 Underdeveloped nasal alae Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000601 Hypotelorism Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0002021 Pyloric stenosis Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0002591 Polyphagia Very frequent (99-80%)
HP:0007018 Attention deficit hyperactivity disorder Very frequent (99-80%)
HP:0008689 Bilateral cryptorchidism Very frequent (99-80%)
HP:0040199 obsolete Flat midface Very frequent (99-80%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0001167 Abnormality of finger Frequent (79-30%)
HP:0001760 Abnormality of the foot Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0001319 Neonatal hypotonia Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002705 High, narrow palate Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0010628 Facial palsy Occasional (29-5%)
HP:0030680 Abnormality of cardiovascular system morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0001249 Intellectual disability 2
HP:0000027 Azoospermia 1
HP:0007437 Multiple cutaneous leiomyomas 1
HP:0011961 Non-obstructive azoospermia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID