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Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD (2010). Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet 152A(9):
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Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, Frum A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert JC, Guzda M, Tommerup N, Brondum-Nielsen K. 1996. Tetrasomy 18p de novo: Parental origin and different mechanisms of formation. Eur J Hum Genet
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At present, treatment for tetrasomy 18p is symptomatic, meaning that the focus is on treating the signs and symptoms of the conditions as they arise. The
Chromosome 18 Clinical Research Center has published a list of recommended screening and evaluations:
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Neonatal complications (apart from congenital anomalies) are common. In a paper published in 2010, 41 of 42 individuals had some type medical problem in the first days of life, the most common being feeding difficulties. Respiratory difficulty and
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Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, Baccicchetti C, H€oller A, Castellan C, Braun-Quentin C, Pfeiffer RA, Schinzel A. 1996. Isochromosome 18p results from maternal meiosis II nondisjunction. Eur J Hum Genet
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Rydzanicz M, Olszewski P, Kedra D, Davies H, Filipowicz N, Bruhn-Olszewska B, Cavalli M, Szczałuba K, Młynek M, Machnicki MM, Stawiński P, Kostrzewa G, Krajewski P, Śladowski D, Chrzanowska K, Dumanski JP, Płoski R (January 2021).
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Current research is focusing on clearly defining the phenotype associated with tetrasomy 18p and identifying which genes cause medical and developmental problems when present in four copies. Tetrasomy 18P World Day is 18th April.
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in a parent's egg or sperm or, in rare cases, is directly inherited from a parent carrier of the intact small supernumerary marker chromosome. It has been reported in both the non-mosaic as well as the
386:. Although there has been some speculation that tetrasomy 18p may occur with a higher frequency in children of older mothers, there is not enough evidence to say that this is definitively the case.
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All reported cases of tetrasomy 18p have some degree of intellectual disability. Most individuals score in the moderate range of intellectual disability based on standardized testing.
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Cardiac anomalies are the most common congenital malformation in individuals with tetrasomy 18p. However, there is no pathognomatic heart defect associated with the condition.
35:
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state. (The phrase "mosaicism" in this context means that some cells carry the genetic change while others do not.) In the grand majority of cases, the isochromosome is
369:
Tetrasomy 18p is caused by the presence of an additional isochromosome composed of two copies of the p arm of chromosome 18. This extra chromosome is classified as a
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in addition to the two normal copies of the chromosome. It is characterized by multiple medical and developmental concerns. Tetrasomy 18P World Day is 18th April.
258:, have also been reported, though they are present in only a minority of patients.Orthopedic anomalies also occur relatively frequently, with
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is common, and many patients required the placement of PE tubes. Small ear canals are also fairly common, but not as much as in 18q-.
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is common. Abnormal genitalia in females is not a common feature. Renal abnormalities have been reported in a minority of patients.
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Severity of tetrasomy 18p is variable. Individuals with mosaicism are typically less severely affected than non-mosaic individuals.
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232:
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655:"Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications"
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Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015).
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Short stature is common, with ~50% being at or below the 25th centile and 20% being at or below the 3rd centile.
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are present in nearly all individuals with tetrasomy 18p. Approximately 25% have epilepsy.
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603:"Small supernumerary marker chromosomes and their correlation with specific syndromes"
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and bladder diverticuli have been reported. Other abdominal malformations, including
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481:/nutritional evaluation of failure to thrive, gastroesophageal reflux, constipation
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evaluation for short stature, to include evaluation for growth hormone deficiency
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Suspicion of a chromosome abnormality is typically raised due to the presence of
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559:"CLINICAL AND CYTOGENETIC CHARACTERIZATION OF A PATIENT WITH TETRASOMY 18P"
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Tetrasomy 18p causes a wide range of medical and developmental problems.
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if you can. Unsourced or poorly sourced material may be challenged and
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from a blood sample. The diagnosis can also be made prenatally by
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is a genetic condition that is caused by the presence of an
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Presence of four copies of the short arm of chromosome 18
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The most common gastrointestinal abnormality is chronic
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is another known feature associated with tetrasomy 18p.
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402:. Diagnosis of tetrasomy 18p is typically made via a
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is present in about 20% of people with tetrasomy 18p.
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ENT referral for management of chronic otitis media
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490:Referral for developmental services and therapy
466:evaluation for management of foot abnormalities
49:Please review the contents of the article and
475:evaluation for seizures, abnormal muscle tone
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211:is the most common defect. Septal defects (
542:: CS1 maint: numeric names: authors list (
187:composed of two copies of the short arm of
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659:Molecular Genetics & Genomic Medicine
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262:being the most common orthopedic issue.
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162:. Tetrasomy 18P World Day is 18th April.
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371:small supernumerary marker chromosome
353:is present in about 40% of patients.
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517:RESERVED, INSERM US14-- ALL RIGHTS.
223:. Other cardiac anomalies include
557:Vazquez-Cantu, Diana (June 2018).
469:Monitor for scoliosis and kyphosis
431:Genetics evaluation and counseling
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563:Journal of Basic Applied Genetics
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287:are also relatively frequent.
51:add the appropriate references
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233:right ventricular hypertrophy
607:Advanced Biomedical Research
404:routine chromosome analysis
154:Tetrasomy 18p is due to an
36:reliable medical references
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225:mitral valve regurgitation
219:) are also common, as are
213:ventricular septal defects
519:"Orphanet: Tetrasomy 18p"
408:chorionic villus sampling
324:Growth hormone deficiency
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42:or relies too heavily on
620:10.4103/2277-9175.161542
400:congenital malformations
270:have also been reported.
209:Patent ductus arteriosus
313:gastrointestinal reflux
815:Autosomal duplications
278:Neonatal complications
221:patent foramina ovalia
229:mitral valve prolapse
217:atrial septal defects
434:Parental chromosomes
396:developmental delays
203:Congenital anomalies
158:of the short arm of
779:External resources
268:rocker bottom feet
195:Signs and symptoms
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671:10.1002/mgg3.1526
315:was also common.
237:pulmonic stenosis
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140:Isochromosome 18p
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479:Gastrointestinal
460:Renal ultrasound
303:Gastrointestinal
272:Myelomeningocele
252:pyloric stenosis
248:Horseshoe kidney
173:Medical genetics
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65:"Tetrasomy 18p"
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44:primary sources
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189:chromosome 18
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185:isochromosome
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181:Tetrasomy 18p
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160:chromosome 18
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156:isochromosome
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132:Tetrasomy 18p
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67: –
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61:Find sources:
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32:This article
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665:(1): e1526.
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571:. Retrieved
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526:. Retrieved
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351:Microcephaly
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309:constipation
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297:otitis media
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40:verification
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448:evaluations
441:evaluations
373:that forms
357:Development
137:Other names
34:needs more
712:4:168–174.
702:3:160–167.
569:(1): 17–23
505:References
464:Orthopedic
457:evaluation
455:Cardiology
421:Management
339:hypertonia
330:Neurologic
295:Recurrent
242:In males,
76:newspapers
473:Neurology
446:audiology
444:Periodic
437:Periodic
390:Diagnosis
335:Hypotonia
319:Endocrine
311:, though
168:Specialty
809:Category
788:Orphanet
689:33319479
639:26322288
591:2164-72.
573:12 March
538:cite web
496:Research
365:Genetics
285:jaundice
264:Clubfoot
106:May 2019
769:C538306
748:: Q99.8
680:7963419
630:4544121
613:: 140.
384:de novo
375:de novo
337:and/or
256:hernias
90:scholar
55:removed
758:614290
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528:17 May
380:mosaic
345:Growth
235:, and
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97:JSTOR
83:books
793:3307
764:MeSH
753:OMIM
685:PMID
635:PMID
575:2019
544:link
530:2019
266:and
254:and
215:and
69:news
38:for
741:ICD
675:PMC
667:doi
625:PMC
615:doi
410:or
398:or
291:ENT
227:,
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
