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  • CN029590 has been replaced by C3150154, showing C3150154

16p11.2 deletion syndrome

MedGen UID:
461504
Concept ID:
C3150154
Disease or Syndrome
Synonyms: 16p11.2 Microdeletion; Chromosome 16p11.2 deletion syndrome; CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
 
Cytogenetic location: 16p11.2
OMIM®: 611913

Disease characteristics

Excerpted from the GeneReview: 16p11.2 Recurrent Microdeletion
The 16p11.2 recurrent microdeletion phenotype is characterized by developmental delay, intellectual disability, and/or autism spectrum disorder (ASD). Developmental delays are related to diminished language, cognitive function, and motor impairments. While IQ scores range from mild intellectual disability to normal, those with IQ scores in the average range typically have other developmental issues such as language delay or ASD. Expressive language appears to be more affected than receptive language. Seizures are observed in approximately 20% of individuals with the recurrent microdeletion. Macrocephaly is common, usually becoming apparent by age two years. Chiari malformations/cerebellar ectopia are the most frequently observed structural brain abnormalities. In individuals with the 16p11.2 recurrent microdeletion the frequency of birth defects of all types is slightly increased, with vertebral anomalies appearing to be most frequent. [from GeneReviews]
Authors:
David T Miller  |  Wendy Chung  |  Ramzi Nasir, et. al.   view full author information

Additional description

From GHR
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. In 16p11.2 deletion syndrome, expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech). Some people with this disorder have recurrent seizures (epilepsy).Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes (partial syndactyly). People with this disorder are also at increased risk of obesity compared with the general population. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among affected members of the same family. Some people with the deletion have no identified physical, intellectual, or behavioral abnormalities.  https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome

Recent clinical studies

Etiology

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study.; 16p11.2 European Consortium.; Simons Variation in Individuals Project (VIP) Consortium.
JAMA Psychiatry 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. PMID: 26629640
Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP
Neuroimage Clin 2015;9:50-7. Epub 2015 Aug 1 doi: 10.1016/j.nicl.2015.07.006. PMID: 26413471Free PMC Article
Yang M, Lewis F, Foley G, Crawley JN
Physiol Behav 2015 Jul 1;146:16-27. doi: 10.1016/j.physbeh.2015.04.023. PMID: 26066718
Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians.
J Dev Behav Pediatr 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed. PMID: 20613623

Diagnosis

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study.; 16p11.2 European Consortium.; Simons Variation in Individuals Project (VIP) Consortium.
JAMA Psychiatry 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. PMID: 26629640
Jenkins J 3rd, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP
Cereb Cortex 2016 May;26(5):1957-64. Epub 2015 Feb 11 doi: 10.1093/cercor/bhv008. PMID: 25678630
Portmann T, Yang M, Mao R, Panagiotakos G, Ellegood J, Dolen G, Bader PL, Grueter BA, Goold C, Fisher E, Clifford K, Rengarajan P, Kalikhman D, Loureiro D, Saw NL, Zhengqui Z, Miller MA, Lerch JP, Henkelman RM, Shamloo M, Malenka RC, Crawley JN, Dolmetsch RE
Cell Rep 2014 May 22;7(4):1077-92. Epub 2014 May 1 doi: 10.1016/j.celrep.2014.03.036. PMID: 24794428Free PMC Article
Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C
Eur J Hum Genet 2014 Mar;22(3):369-73. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.141. PMID: 23860047Free PMC Article
Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians.
J Dev Behav Pediatr 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed. PMID: 20613623

Prognosis

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study.; 16p11.2 European Consortium.; Simons Variation in Individuals Project (VIP) Consortium.
JAMA Psychiatry 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. PMID: 26629640
Berman JI, Chudnovskaya D, Blaskey L, Kuschner E, Mukherjee P, Buckner R, Nagarajan S, Chung WK, Spiro JE, Sherr EH, Roberts TP
Neuroimage Clin 2015;9:50-7. Epub 2015 Aug 1 doi: 10.1016/j.nicl.2015.07.006. PMID: 26413471Free PMC Article
Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH
JAMA Psychiatry 2015 Feb;72(2):119-26. doi: 10.1001/jamapsychiatry.2014.2147. PMID: 25493922

Clinical prediction guides

Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME
Nat Neurosci 2016 Mar;19(3):517-22. Epub 2016 Feb 1 doi: 10.1038/nn.4235. PMID: 26829649Free PMC Article
Jenkins J 3rd, Chow V, Blaskey L, Kuschner E, Qasmieh S, Gaetz L, Edgar JC, Mukherjee P, Buckner R, Nagarajan SS, Chung WK, Spiro JE, Sherr EH, Berman JI, Roberts TP
Cereb Cortex 2016 May;26(5):1957-64. Epub 2015 Feb 11 doi: 10.1093/cercor/bhv008. PMID: 25678630
Portmann T, Yang M, Mao R, Panagiotakos G, Ellegood J, Dolen G, Bader PL, Grueter BA, Goold C, Fisher E, Clifford K, Rengarajan P, Kalikhman D, Loureiro D, Saw NL, Zhengqui Z, Miller MA, Lerch JP, Henkelman RM, Shamloo M, Malenka RC, Crawley JN, Dolmetsch RE
Cell Rep 2014 May 22;7(4):1077-92. Epub 2014 May 1 doi: 10.1016/j.celrep.2014.03.036. PMID: 24794428Free PMC Article
Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C
Eur J Hum Genet 2014 Mar;22(3):369-73. Epub 2013 Jul 17 doi: 10.1038/ejhg.2013.141. PMID: 23860047Free PMC Article
Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians.
J Dev Behav Pediatr 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed. PMID: 20613623

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