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Deletion 1p36

MedGen UID:
273705
•Concept ID:
C1515592
•
Cell or Molecular Dysfunction
Synonyms: 1p36 Deletion; del(1p36); Loss of Chromosome 1p36
SNOMED CT: Deletion 1p36 (737545003)

Definition

A chromosomal deletion involving the p36 band of chromosome 1. This deletion is associated with 1p36 deletion syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeletion 1p36

Professional guidelines

PubMed

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses.
Caroselli S, Figliuzzi M, Picchetta L, Cogo F, Zambon P, Pergher I, Girardi L, Patassini C, Poli M, Bakalova D, Cimadomo D, Findikli N, Coban O, Serdarogullari M, Favero F, Bortolato S, Anastasi A, Capodanno F, Gallinelli A, Brancati F, Rienzi L, Ubaldi FM, Jimenez-Almazán J, Blesa-Jarque D, Miravet-Valenciano J, Rubio C, Simòn C, Capalbo A
Hum Reprod 2023 Apr 3;38(4):762-775. doi: 10.1093/humrep/dead033. PMID: 36824049
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908
Risk-based management: current concepts of treating malignant solid tumors of childhood.
Grosfeld JL
J Am Coll Surg 1999 Oct;189(4):407-25. doi: 10.1016/s1072-7515(99)00167-2. PMID: 10509467

Recent clinical studies

Etiology

The use of genomic microarrays to study chromosomal abnormalities in mental retardation.
Mao R, Pevsner J
Ment Retard Dev Disabil Res Rev 2005;11(4):279-85. doi: 10.1002/mrdd.20082. PMID: 16240409

Diagnosis

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.
Fu F, Deng Q, Lei TY, Li R, Jing XY, Yang X, Liao C
Arch Gynecol Obstet 2017 Nov;296(5):929-940. Epub 2017 Sep 13 doi: 10.1007/s00404-017-4518-2. PMID: 28905115
Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function.
Di Donato N, Klink B, Hahn G, Schrock E, Hackmann K
Eur J Med Genet 2014 Sep;57(9):494-7. Epub 2014 May 23 doi: 10.1016/j.ejmg.2014.05.004. PMID: 24862882
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B
Am J Med Genet A 2011 Sep;155A(9):2196-202. Epub 2011 Aug 3 doi: 10.1002/ajmg.a.34131. PMID: 21815254
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC
Pediatrics 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. PMID: 18245432
The use of genomic microarrays to study chromosomal abnormalities in mental retardation.
Mao R, Pevsner J
Ment Retard Dev Disabil Res Rev 2005;11(4):279-85. doi: 10.1002/mrdd.20082. PMID: 16240409

Prognosis

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.
Fu F, Deng Q, Lei TY, Li R, Jing XY, Yang X, Liao C
Arch Gynecol Obstet 2017 Nov;296(5):929-940. Epub 2017 Sep 13 doi: 10.1007/s00404-017-4518-2. PMID: 28905115

Clinical prediction guides

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, Heinig M, Padera RF, Wassilew K, Bluhm J, Harnack C, Martitz J, Barton PJ, Greutmann M, Berger F, Hubner N, Siebert R, Kramer HH, Cook SA, MacRae CA, Klaassen S
Am J Hum Genet 2013 Jul 11;93(1):67-77. Epub 2013 Jun 13 doi: 10.1016/j.ajhg.2013.05.015. PMID: 23768516Free PMC Article
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC
Pediatrics 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. PMID: 18245432

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