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Distal monosomy 1q

MedGen UID:
900126
•Concept ID:
C4273897
•
Disease or Syndrome
Synonyms: Distal deletion 1q; distal deletion 1q; distal monosomy 1q; Distal monosomy 1q syndrome; distal monosomy type 1q; Monosomy 1qter; monosomy 1qter; Telomeric deletion 1q; telomeric deletion 1q
SNOMED CT: Distal monosomy 1q (717633007); Distal deletion 1q (717633007); Monosomy 1qter (717633007); Telomeric deletion 1q (717633007); Distal monosomy 1q syndrome (717633007)
 
Monarch Initiative: MONDO:0018205
Orphanet: ORPHA36367

Definition

A chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal monosomy 1q

Recent clinical studies

Etiology

Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas.
Fieuw A, Kumps C, Schramm A, Pattyn F, Menten B, Antonacci F, Sudmant P, Schulte JH, Van Roy N, Vergult S, Buckley PG, De Paepe A, Noguera R, Versteeg R, Stallings R, Eggert A, Vandesompele J, De Preter K, Speleman F
Int J Cancer 2012 Jun 1;130(11):2599-606. Epub 2011 Aug 29 doi: 10.1002/ijc.26317. PMID: 21796619
Comparative genomic hybridization of cancer of the gastroesophageal junction: deletion of 14Q31-32.1 discriminates between esophageal (Barrett's) and gastric cardia adenocarcinomas.
van Dekken H, Geelen E, Dinjens WN, Wijnhoven BP, Tilanus HW, Tanke HJ, Rosenberg C
Cancer Res 1999 Feb 1;59(3):748-52. PMID: 9973227
Identification of a consistent region of allelic loss on 1p32 in meningiomas: correlation with increased morbidity.
Sulman EP, Dumanski JP, White PS, Zhao H, Maris JM, Mathiesen T, Bruder C, Cnaan A, Brodeur GM
Cancer Res 1998 Aug 1;58(15):3226-30. PMID: 9699646
Deletion of 1p36 in childhood endodermal sinus tumors by two-color fluorescence in situ hybridization: a pediatric oncology group study.
Perlman EJ, Valentine MB, Griffin CA, Look AT
Genes Chromosomes Cancer 1996 May;16(1):15-20. doi: 10.1002/(SICI)1098-2264(199605)16:1<15::AID-GCC2>3.0.CO;2-6. PMID: 9162192
High-density mapping of chromosomal arm 1q in renal collecting duct carcinoma: region of minimal deletion at 1q32.1-32.2.
Steiner G, Cairns P, Polascik TJ, Marshall FF, Epstein JI, Sidransky D, Schoenberg M
Cancer Res 1996 Nov 1;56(21):5044-6. PMID: 8895762

Diagnosis

Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound.
Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Chen WL, Wang W
Taiwan J Obstet Gynecol 2020 Jul;59(4):598-603. doi: 10.1016/j.tjog.2020.05.022. PMID: 32653137
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
Lévy J, Receveur A, Jedraszak G, Chantot-Bastaraud S, Renaldo F, Gondry J, Andrieux J, Copin H, Siffroi JP, Portnoï MF
Am J Med Genet A 2015 Feb;167A(2):428-33. Epub 2014 Nov 26 doi: 10.1002/ajmg.a.36857. PMID: 25428228
Comparative genomic hybridization of cancer of the gastroesophageal junction: deletion of 14Q31-32.1 discriminates between esophageal (Barrett's) and gastric cardia adenocarcinomas.
van Dekken H, Geelen E, Dinjens WN, Wijnhoven BP, Tilanus HW, Tanke HJ, Rosenberg C
Cancer Res 1999 Feb 1;59(3):748-52. PMID: 9973227
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009
A specific syndrome due to deletion of the distal long arm of chromosome 1.
Meinecke P, Vögtel D
Am J Med Genet 1987 Oct;28(2):371-6. doi: 10.1002/ajmg.1320280215. PMID: 3322005

Prognosis

Molecular cytogenetic analysis of non-small cell lung carcinoma by spectral karyotyping and comparative genomic hybridization.
Luk C, Tsao MS, Bayani J, Shepherd F, Squire JA
Cancer Genet Cytogenet 2001 Mar;125(2):87-99. doi: 10.1016/s0165-4608(00)00363-0. PMID: 11369051
Comparative genomic hybridization of cancer of the gastroesophageal junction: deletion of 14Q31-32.1 discriminates between esophageal (Barrett's) and gastric cardia adenocarcinomas.
van Dekken H, Geelen E, Dinjens WN, Wijnhoven BP, Tilanus HW, Tanke HJ, Rosenberg C
Cancer Res 1999 Feb 1;59(3):748-52. PMID: 9973227
Identification of a consistent region of allelic loss on 1p32 in meningiomas: correlation with increased morbidity.
Sulman EP, Dumanski JP, White PS, Zhao H, Maris JM, Mathiesen T, Bruder C, Cnaan A, Brodeur GM
Cancer Res 1998 Aug 1;58(15):3226-30. PMID: 9699646
Deletion of 1p36 in childhood endodermal sinus tumors by two-color fluorescence in situ hybridization: a pediatric oncology group study.
Perlman EJ, Valentine MB, Griffin CA, Look AT
Genes Chromosomes Cancer 1996 May;16(1):15-20. doi: 10.1002/(SICI)1098-2264(199605)16:1<15::AID-GCC2>3.0.CO;2-6. PMID: 9162192
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009

Clinical prediction guides

Identification of a consistent region of allelic loss on 1p32 in meningiomas: correlation with increased morbidity.
Sulman EP, Dumanski JP, White PS, Zhao H, Maris JM, Mathiesen T, Bruder C, Cnaan A, Brodeur GM
Cancer Res 1998 Aug 1;58(15):3226-30. PMID: 9699646
High-density mapping of chromosomal arm 1q in renal collecting duct carcinoma: region of minimal deletion at 1q32.1-32.2.
Steiner G, Cairns P, Polascik TJ, Marshall FF, Epstein JI, Sidransky D, Schoenberg M
Cancer Res 1996 Nov 1;56(21):5044-6. PMID: 8895762
Distal nephron renal tumors: microsatellite allelotype.
Polascik TJ, Cairns P, Epstein JI, Fuzesi L, Ro JY, Marshall FF, Sidransky D, Schoenberg M
Cancer Res 1996 Apr 15;56(8):1892-5. PMID: 8620510
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009
Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.
Humphries P, Farrar GJ, Kenna P, McWilliam P
Clin Genet 1990 Jul;38(1):1-13. doi: 10.1111/j.1399-0004.1990.tb03541.x. PMID: 2201466

Supplemental Content

Table of contents

    Genetic Testing Registry

    Clinical resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
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