Tetrasomy 18p

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.



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Narrow down the case reports



Total: 20 (papers)

   


(per page)
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
(57.8%)		 27309155
 Tetrasomy 18p in a Twin Pregnancy with Diverse Expression in Both Fetuses.
Inan C, Sayn NC, Atl E, Ulusal S, Erzincan S, Uzun I, Gurkan H, Varol FG.
Fetal Pediatr Pathol. 2016;35(5):339-343.
Microcephaly Micrognathia
Abnormal Karyotype Adult Aneuploidy Chromosomes, Human, Pair 18 Females Homo sapiens Pregnancy Pregnancy, Twin Ultrasonography, Prenatal
3
(56.2%)		 3703823
 Mosaicism of isochromosome 18p. Cytogenetic and morphological findings in a male fetus at 21 weeks.
Gocke H, Muradow I, Zerres K, Hansmann M.
Prenat Diagn. 1986;6(2):151-7.
Retrognathia Flexion contracture of finger
Adult Amniocentesis Aneuploidy Chromosome Aberrations Chromosomes, Human, 16-18 Females Homo sapiens Male Mitosis Mosaicism Phenotype Pregnancy
4
(53.2%)		 20964117
 The variable phenotype in tetrasomy 18p syndrome. A propos of a subtle dysmorphic case.
Brambila Tapia AJ, Figuera L, Vazquez Cardenas NA, Ramirez Torres V, Vazquez Velazquez AI, Garcia Contreras C, Ramirez Duenas ML.
Genet Couns. 2010;21(3):277-83.
Microcephaly Long fingers
S100A10
Aneuploidy Child, Preschool Chromosomes, Human, Pair 18 Craniofacial Abnormalities Developmental Disabilities Females Homo sapiens Intellectual Disability Isochromosomes Male Muscle Spasticity Phenotype Syndrome
5
(47.6%)		 28868271
(5568194)
 Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities.
Karimzad Hagh J, Liehr T, Ghaedi H, Mossalaeie MM, Alimohammadi S, Inanloo Hajiloo F, Moeini Z, Sarabi S, Zare-Abdollahi D.
Int J Mol Cell Med. 2017;6(1):61-65.
Low anterior hairline Clinodactyly
6
(47.5%)		 20420032
 A case with a rare chromosomal abnormality: isochromosome 18p.
Dundar M, Caglayan AO, Saatci C, Cetin Z, Arslan K, Uzak AS.
Genet Couns. 2010;21(1):69-74.
High palate Microcephaly Long philtrum
Aneuploidy Brain Child, Preschool Chromosomes, Human, Pair 18 Craniofacial Abnormalities Females Homo sapiens Intellectual Disability Isochromosomes Syndrome
7
(46.3%)		 22205896
 A rare chromosomal disorder - isochromosome 18p syndrome.
Plaiasu V, Ochiana D, Motei G, Georgescu A.
Maedica (Buchar). 2011;6(2):132-6.
Microcephaly Talipes
8
(39.0%)		 29467581
(5811181)
 Tetrasomy 18p: case report and review of literature.
Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N, AlBalwi M, Alswaid A, Alfadhel M.
Appl Clin Genet. 2018;11:9-14.
Microcephaly
8
(39.0%)		 22733277
 [Tetrasomy 18p syndrome and hearing loss. An unusual case].
Schwemmle C, Arslan-Kirchner M, Pabst B, Ptok M.
HNO. 2012;60(10):901-5.
Microcephaly
Aneuploidy Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 18 Hearing Loss, Bilateral Homo sapiens Male
8
(39.0%)		 16114050
 DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.
DeBerardinis RJ, Medne L, Spinner NB, Zackai EH.
Am J Med Genet A. 2005;138A(2):155-9.
Microcephaly
Adult Chromosome Banding Chromosomes, Human, Pair 18 DiGeorge Syndrome Diabetes Mellitus, Insulin-Dependent Fatal Outcome Females Fluorescent in Situ Hybridization Homo sapiens Infant Isochromosomes Male Pregnancy Pregnancy in Diabetics
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000271 Abnormality of the face Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0002269 Abnormality of neuronal migration Very frequent (99-80%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000233 Thin vermilion border Occasional (29-5%)
HP:0000324 Facial asymmetry Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0001176 Large hands Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001279 Syncope Occasional (29-5%)
HP:0001288 Gait disturbance Occasional (29-5%)
HP:0002571 Achalasia Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0003196 Short nose Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 8

HPO ID Term # of case reports
HP:0000047 Hypospadias 1
HP:0000252 Microcephaly 1
HP:0000278 Retrognathia 1
HP:0000369 Low-set ears 1
HP:0001510 Growth delay 1
HP:0002650 Scoliosis 1
HP:0010055 Broad hallux 1
HP:0012785 Flexion contracture of finger 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID