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Chromosome Xp11.22 duplication syndrome(MRX17)

MedGen UID:
208679
Concept ID:
C0796238
Disease or Syndrome
Synonyms: MENTAL RETARDATION, X-LINKED 17; MENTAL RETARDATION, X-LINKED 31; MRX17
 
Monarch Initiative: MONDO:0010406
OMIM®: 300705

Definition

Nonsyndromic mental retardation with delayed speech development and occasional strabismus and single palmar creases. [from MCA/MR]

Clinical features

From HPO
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.

Professional guidelines

PubMed

Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E
Am J Med Genet A 2016 Apr;170A(4):967-77. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37519. PMID: 26692240

Recent clinical studies

Etiology

Wang Q, Chen P, Liu J, Lou J, Liu Y, Yuan H
BMC Med Genomics 2020 May 7;13(1):66. doi: 10.1186/s12920-020-0728-8. PMID: 32381089Free PMC Article
Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, Calcaterra V, Invernizzi P, Larizza D, Finelli P, Persani L
Hum Reprod 2014 Feb;29(2):368-79. Epub 2013 Dec 8 doi: 10.1093/humrep/det436. PMID: 24324027Free PMC Article
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015

Diagnosis

Santos-Rebouças CB, Boy R, Fernandes GNS, Gonçalves AP, Abdala BB, Gonzalez LGC, Dos Santos JM, Pimentel MMG
Eur J Med Genet 2023 Apr;66(4):104716. Epub 2023 Jan 30 doi: 10.1016/j.ejmg.2023.104716. PMID: 36731745
Schierz IAM, Amoroso S, Antona V, Giuffrè M, Piro E, Serra G, Corsello G
Ital J Pediatr 2022 Jul 29;48(1):132. doi: 10.1186/s13052-022-01330-6. PMID: 35906647Free PMC Article
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E
Am J Med Genet A 2016 Apr;170A(4):967-77. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37519. PMID: 26692240
Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, Calcaterra V, Invernizzi P, Larizza D, Finelli P, Persani L
Hum Reprod 2014 Feb;29(2):368-79. Epub 2013 Dec 8 doi: 10.1093/humrep/det436. PMID: 24324027Free PMC Article
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015

Prognosis

Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, Calcaterra V, Invernizzi P, Larizza D, Finelli P, Persani L
Hum Reprod 2014 Feb;29(2):368-79. Epub 2013 Dec 8 doi: 10.1093/humrep/det436. PMID: 24324027Free PMC Article

Clinical prediction guides

Wang Q, Chen P, Liu J, Lou J, Liu Y, Yuan H
BMC Med Genomics 2020 May 7;13(1):66. doi: 10.1186/s12920-020-0728-8. PMID: 32381089Free PMC Article
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E
Am J Med Genet A 2016 Apr;170A(4):967-77. Epub 2015 Dec 22 doi: 10.1002/ajmg.a.37519. PMID: 26692240
Castronovo C, Rossetti R, Rusconi D, Recalcati MP, Cacciatore C, Beccaria E, Calcaterra V, Invernizzi P, Larizza D, Finelli P, Persani L
Hum Reprod 2014 Feb;29(2):368-79. Epub 2013 Dec 8 doi: 10.1093/humrep/det436. PMID: 24324027Free PMC Article

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