197:.) These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22 and extra genetic material from the der(22) chromosome. As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to intellectual disability and birth defects. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.
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193:. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. As this translocation is passed to the next generation, it can become unbalanced. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. (This der(22) chromosome is classified as one of the
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Emanuel syndrome is an inherited chromosome abnormality. It is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with
Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of
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of the external auditory canal present. Deafness may occur, but severe hearing loss is uncommon; the occurrence of mild forms of hearing loss may be underestimated due to difficulties associated with accurately evaluating hearing in individuals with intellectual disabilities. About half of all
229:
Emanuel syndrome has no known cure, but individual symptoms may be treated. Assessments of individual systems, such as the cardiovascular, gastrointestinal, orthopedic, and neurological, may be necessary to determine the extent of impairment and options for treatment.
139:). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability. Other features of Emanuel syndrome include an unusually small head (
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People with
Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a
322:. In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.).
109:. An unbalanced translocation between chromosomes 11 and 22 is described as Emanuel syndrome. It was first described in 1980 by American medical researchers Beverly S. Emanuel and
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168:) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually
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heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1
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chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22, or der(22), chromosome.
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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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147:). Ear abnormalities are common, including small holes in the skin just in front of the ears (
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290:"Emanuel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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57:(right) are both involved in causing the syndrome, due to extra genetic material.
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affected infants are born with an opening in the roof of the mouth (
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McDonald-McGinn DM, Hain HS, Emanuel BS, et al. (1993–2020).
172:; these problems can be life-threatening in infancy or childhood.
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The small supernumerary marker chromosome in the
Emanuel syndrome
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Emanuel, Beverly S.; Zackai, Elaine H.; Medne, Livija (1993).
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378:. In Adam MP, Ardinger HH, Pagon RA, et al. (eds.).
135:) and fail to gain weight and grow at the expected rate (
113:, and a consortium of European scientists the same year.
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of the ear is typically malformed, with possibly severe
143:), distinctive facial features, and a small lower jaw (
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Infants with
Emanuel syndrome have weak muscle tone (
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326:. Seattle (WA): University of Washington, Seattle.
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484:. U.S. National Library of Medicine. 2016.
411:. U.S. National Library of Medicine. 2016.
94:malsegregation event resulting in partial
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1196:Bachelor of Medicine, Bachelor of Surgery
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205:Emanuel syndrome can be diagnosed with a
30:derivative 22 syndrome, der(22) syndrome
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1410:Syndromes with intellectual disability
195:small supernumerary marker chromosomes
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149:preauricular pits, or sinuses
1201:Bachelor of Medical Sciences
968:Neurosurgical anesthesiology
428:Advanced Biomedical Research
382:. University of Washington.
1415:Syndromes with microcephaly
376:"22q11.2 Deletion Syndrome"
346:"What is Emanuel Syndrome?"
170:small (hypoplastic) kidneys
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264:Reference, Genetics Home.
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294:rarediseases.info.nih.gov
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963:Obstetric anesthesiology
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643:Digestive system surgery
441:10.4103/2277-9175.161542
1026:Intensive care medicine
1000:Mass gathering medicine
845:Maternal–fetal medicine
482:Genetics Home Reference
409:Genetics Home Reference
350:www.emanuelsyndrome.org
270:Genetics Home Reference
80:intellectual disability
618:Cardiothoracic surgery
191:balanced translocation
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68:derivative 22 syndrome
1269:Personalized medicine
1128:Reproductive medicine
1053:Occupational medicine
1007:Evolutionary medicine
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78:, including profound
1289:Traditional medicine
1249:Alternative medicine
1116:Addiction psychiatry
930:Transfusion medicine
925:Medical microbiology
840:Gynecologic oncology
692:Reproductive surgery
76:congenital anomalies
1395:Autosomal trisomies
1311:History of medicine
1294:Veterinary medicine
1101:Preventive medicine
953:Adolescent medicine
795:Infectious diseases
1259:Molecular oncology
1216:Doctor of Medicine
1206:Master of Medicine
1123:Radiation oncology
995:Emergency medicine
948:Addiction medicine
915:Clinical chemistry
910:Clinical pathology
702:Transplant surgery
660:Orthopedic surgery
638:Colorectal surgery
320:"Emanuel Syndrome"
266:"Emanuel syndrome"
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1400:Genetic syndromes
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1160:Tropical medicine
1106:Prison healthcare
1021:Hospital medicine
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975:Aviation medicine
790:Hospital medicine
697:Surgical oncology
682:Pediatric surgery
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623:Endocrine surgery
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137:failure to thrive
117:Sign and symptoms
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22:Emanuel syndrome
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358:. Retrieved
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273:. Retrieved
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166:cleft palate
145:micrognathia
141:microcephaly
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126:Microcephaly
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1349:Wikiproject
1138:Venereology
1083:Neonatology
980:Dermatology
835:Gynaecology
827:gynaecology
810:Pulmonology
628:Eye surgery
590:Specialties
380:GeneReviews
324:GeneReviews
100:chromosomes
88:conotruncal
53:(left) and
49:Chromosome
27:Other names
1384:Categories
1111:Psychiatry
1097:(PM&R)
1090:Phlebology
1078:Pediatrics
905:Anatomical
870:Diagnostic
850:Obstetrics
800:Nephrology
785:Hematology
780:Geriatrics
773:Hepatology
758:Cardiology
748:Immunology
534:DiseasesDB
390:. NBK1523.
360:2018-03-05
334:. NBK1263.
299:2017-02-25
275:2017-02-24
246:References
1299:Physician
1183:education
1041:Neurology
1036:Narcology
900:Pathology
878:Radiology
753:Angiology
717:Andrology
225:Treatment
207:karyotype
201:Diagnosis
133:hypotonia
84:skin tags
1329:Category
805:Oncology
736:medicine
734:Internal
582:Medicine
460:26322288
388:20301696
332:20301440
234:See also
185:Genetics
157:microtia
1369:Outline
1339:Commons
1284:Therapy
1181:Medical
744:Allergy
712:Urology
605:Surgery
528:C535733
451:4544121
434:: 140.
213:in situ
161:atresia
153:auricle
96:trisomy
92:meiotic
1359:Portal
1226:MD–PhD
517:609029
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176:Causes
941:Other
539:34403
217:or a
159:with
70:, or
523:MeSH
512:OMIM
456:PMID
384:PMID
328:PMID
105:and
675:ENT
593:and
446:PMC
436:doi
98:of
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278:.
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