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1q41q42 microdeletion syndrome

MedGen UID:
898531
•Concept ID:
C4274528
•
Disease or Syndrome
Synonyms: 1q41-q42 microdeletion syndrome; Monosomy 1q41q42
SNOMED CT: 1q41q42 microdeletion syndrome (716515000); Monosomy 1q41q42 (716515000); 1q41-q42 microdeletion syndrome (716515000)

Definition

A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. [from SNOMEDCT_US]

Professional guidelines

PubMed

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
David D, Freixo JP, Fino J, Carvalho I, Marques M, Cardoso M, Piña-Aguilar RE, Morton CC
Hum Genet 2020 Apr;139(4):531-543. Epub 2020 Feb 6 doi: 10.1007/s00439-020-02121-x. PMID: 32030560Free PMC Article

Recent clinical studies

Etiology

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG
Eur J Med Genet 2011 Jan-Feb;54(1):42-9. Epub 2010 Oct 15 doi: 10.1016/j.ejmg.2010.10.002. PMID: 20951845

Diagnosis

Clinical characterization of DISP1 haploinsufficiency: A case report.
Jun KR, Hur YJ, Lee JN, Kim HR, Shin JH, Oh SH, Lee JY, Seo EJ
Eur J Med Genet 2013 Jun;56(6):309-13. Epub 2013 Mar 28 doi: 10.1016/j.ejmg.2013.03.007. PMID: 23542665
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG
Eur J Med Genet 2011 Jan-Feb;54(1):42-9. Epub 2010 Oct 15 doi: 10.1016/j.ejmg.2010.10.002. PMID: 20951845
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T
Genet Med 2007 Sep;9(9):607-16. doi: 10.1097/gim.0b013e3181484b49. PMID: 17873649

Therapy

Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.
Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T
Brain Dev 2019 May;41(5):452-455. Epub 2019 Jan 8 doi: 10.1016/j.braindev.2018.12.006. PMID: 30635136

Clinical prediction guides

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A
Am J Med Genet A 2014 Feb;164A(2):441-8. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36320. PMID: 24357076

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