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.

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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.

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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.

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Abnormality of the musculoskeletal system
- Macrocephaly
Abnormality of the nervous system
- Delayed speech and language development
- Intellectual disability

Professional guidelines

PubMed

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

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

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Recent clinical studies

Etiology

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.

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: 32381089 Free PMC Article

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.

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: 24324027 Free PMC Article

Familial Poland anomaly revisited.

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

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Diagnosis

A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.

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

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.

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: 32381089 Free PMC Article

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

Verbeek S, Vanakker O, Mercelis R, Lipka AF, Haerynck F, Dullaers M, Verloo P, Van Coster R, Verhelst H
Eur J Paediatr Neurol 2014 May;18(3):439-43. Epub 2014 Jan 15 doi: 10.1016/j.ejpn.2014.01.001. PMID: 24461257

Familial Poland anomaly revisited.

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