Tetrasomy 5p

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(44.7%)		 437770
 "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.
Leschot NJ, Lim KS.
Hum Genet. 1979;46(3):271-8.
Macrocephaly Epicanthus
Child, Preschool Chromosomes, Human, 4-5 Dermatoglyphics Females Homo sapiens Psychomotor Disorders Trisomy
2
(33.7%)		 11360274
 Prenatal diagnosis of mosaic tetrasomy 5p.
Park JP, Barefoot KH, Ornvold K, Berg SZ, Dossu JR, Mohandas TK.
Prenat Diagn. 2001;21(5):351-3.
Long philtrum
Adult Amniocentesis Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 5 Cultured Cells Fatal Outcome Females Fetal Diseases Fluorescent in Situ Hybridization Gestational Age Homo sapiens Mosaicism Pregnancy
3
(24.9%)		 15164412
 Prenatal diagnosis of an isochromosome 5p in a fetus with increased nuchal translucency thickness and pulmonary atresia with hypoplastic right heart at 14 weeks.
Paulick J, Tennstedt C, Schwabe M, Korner H, Bommer C, Chaoui R.
Prenat Diagn. 2004;24(5):371-4.
Cystic hygroma
Adult Chorionic Villi Sampling Congenital Heart Defects Differential Diagnosis Females Homo sapiens Isochromosomes Neck Pregnancy Ultrasonography
4
(4.0%)		 22247041
 Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: case report and review of literature.
Brock JA, Dyack S, Ludman M, Dumas N, Gaudet M, Morash B.
Am J Med Genet A. 2012;158A(2):406-11.
Seizure
S100A10
Child Chromosome Banding Chromosomes, Human, Pair 5 Cultured Cells Developmental Disabilities Fibroblasts Fluorescent in Situ Hybridization Homo sapiens Hydrocephalus Isochromosomes Male Mosaicism Tetrasomy
4
(4.0%)		 8456861
 Mosaic 5p tetrasomy.
Stanley WS, Powell CM, Devine GC, Ellingham T, Samango-Sprouse CA, Vaught DR, Murphy BA, Rosenbaum KN.
Am J Med Genet. 1993;45(6):774-6.
Seizure
Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 5 Females Fluorescent in Situ Hybridization Genetic Markers Homo sapiens Intellectual Disability Mosaicism Pigmentation Disorders Seizures
        

Phenotype(s) retrieved from Orphanet

    Total: 44

HPO ID Term Frequency
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000767 Pectus excavatum Very frequent (99-80%)
HP:0000961 Cyanosis Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001319 Neonatal hypotonia Very frequent (99-80%)
HP:0001321 Cerebellar hypoplasia Very frequent (99-80%)
HP:0001635 Congestive heart failure Very frequent (99-80%)
HP:0001845 Overlapping toe Very frequent (99-80%)
HP:0002092 Pulmonary arterial hypertension Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0006931 Lipoma of corpus callosum Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0100807 Long fingers Very frequent (99-80%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000369 Low-set ears Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0001508 Failure to thrive Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0002880 obsolete Respiratory difficulties Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004467 Preauricular pit Frequent (79-30%)
HP:0005989 Redundant neck skin Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0010109 Short hallux Frequent (79-30%)
HP:0030148 Heart murmur Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000260 Wide anterior fontanel Occasional (29-5%)
HP:0001612 Weak cry Occasional (29-5%)
HP:0002089 Pulmonary hypoplasia Occasional (29-5%)
HP:0007483 Depigmentation/hyperpigmentation of skin Occasional (29-5%)
HP:0007930 obsolete Prominent epicanthal folds Occasional (29-5%)
HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0001250 Seizures 1
HP:0001510 Growth delay 1
HP:0002119 Ventriculomegaly 1
HP:0010880 Increased nuchal translucency 1
HP:0010954 Hypoplastic right heart 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID