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Tetrasomy 9p

MedGen UID:
162876
Concept ID:
C0795832
Disease or Syndrome
Synonyms: Chromosome 9, tetrasomy 9p; Chromosome 9, tetrasomy 9p mosaicism; Mosaic tetrasomy 9p; Tetrasomy, short arm of chromosome 9
SNOMED CT: Isochromosome 9p (715530004); Tetrasomy 9p (715530004); Tetrasomy of short arm of chromosome 9 (715530004)
 
Monarch Initiative: MONDO:0018030
Orphanet: ORPHA3310

Definition

Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetrasomy 9p
Follow this link to review classifications for Tetrasomy 9p in Orphanet.

Professional guidelines

PubMed

Chen CP
Taiwan J Obstet Gynecol 2024 Sep;63(5):633-636. doi: 10.1016/j.tjog.2024.07.004. PMID: 39266143

Recent clinical studies

Etiology

Bellil H, Herve B, Herzog E, Ayoubi JM, Vialard F, Poulain M
J Assist Reprod Genet 2020 Mar;37(3):573-577. Epub 2020 Jan 24 doi: 10.1007/s10815-020-01690-0. PMID: 31981038Free PMC Article
Coman D, Bacic S, Boys A, Sparrow DB, Dunwoodie SL, Savarirayan R, Amor DJ
Am J Med Genet A 2008 Aug 1;146A(15):1972-6. doi: 10.1002/ajmg.a.32299. PMID: 18627039
Stumm M, Tönnies H, Mandon U, Götze A, Krebs P, Wieacker PF
Eur J Pediatr 1999 Jul;158(7):571-5. doi: 10.1007/s004310051149. PMID: 10412817
Grass FS, Parke JC Jr, Kirkman HN, Christensen V, Roddey OF, Wade RV, Knutson C, Spence JE
Am J Med Genet 1993 Nov 1;47(6):812-6. doi: 10.1002/ajmg.1320470603. PMID: 7506483

Diagnosis

Chen CP
Taiwan J Obstet Gynecol 2024 Sep;63(5):633-636. doi: 10.1016/j.tjog.2024.07.004. PMID: 39266143
Lazebnik N, Cohen L
J Obstet Gynaecol Res 2015 Jul;41(7):997-1002. Epub 2015 May 6 doi: 10.1111/jog.12706. PMID: 25944096
Chen CP, Wang LK, Chern SR, Wu PS, Chen YT, Kuo YL, Chen WL, Lee MS, Wang W
Taiwan J Obstet Gynecol 2014 Mar;53(1):79-85. doi: 10.1016/j.tjog.2013.12.002. PMID: 24767652
Dhandha S, Hogge WA, Surti U, McPherson E
Am J Med Genet 2002 Dec 15;113(4):375-80. doi: 10.1002/ajmg.b.10826. PMID: 12457411
Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F
J Craniomaxillofac Surg 2000 Jun;28(3):165-70. doi: 10.1054/jcms.2000.0126. PMID: 10964553

Therapy

Ions R, Narayanan M, Browning M, Gaillard EA, Stiefel G, Tang JW
BMC Infect Dis 2018 Oct 22;18(1):529. doi: 10.1186/s12879-018-3441-x. PMID: 30348093Free PMC Article
Wilson GN, Raj A, Baker D
Am J Med Genet 1985 Feb;20(2):277-82. doi: 10.1002/ajmg.1320200211. PMID: 3976721

Prognosis

Shehab MI, Mazen I, Bint S
Am J Med Genet A 2011 Oct;155A(10):2496-2500. doi: 10.1002/ajmg.a.34176. PMID: 21998854
Dhandha S, Hogge WA, Surti U, McPherson E
Am J Med Genet 2002 Dec 15;113(4):375-80. doi: 10.1002/ajmg.b.10826. PMID: 12457411
Kobayashi J, Kimijima Y, Yamada S, Amagasa T, Saito-Ohara F
J Craniomaxillofac Surg 2000 Jun;28(3):165-70. doi: 10.1054/jcms.2000.0126. PMID: 10964553
Tonk VS
Clin Genet 1997 Jul;52(1):23-9. doi: 10.1111/j.1399-0004.1997.tb02510.x. PMID: 9272709
Grass FS, Parke JC Jr, Kirkman HN, Christensen V, Roddey OF, Wade RV, Knutson C, Spence JE
Am J Med Genet 1993 Nov 1;47(6):812-6. doi: 10.1002/ajmg.1320470603. PMID: 7506483

Clinical prediction guides

Pinto IP, Minasi LB, Steckelberg R, da Silva CC, da Cruz AD
BMC Pediatr 2018 Sep 7;18(1):298. doi: 10.1186/s12887-018-1275-8. PMID: 30193577Free PMC Article
Dhandha S, Hogge WA, Surti U, McPherson E
Am J Med Genet 2002 Dec 15;113(4):375-80. doi: 10.1002/ajmg.b.10826. PMID: 12457411
Tonk VS
Clin Genet 1997 Jul;52(1):23-9. doi: 10.1111/j.1399-0004.1997.tb02510.x. PMID: 9272709
Jalal SM, Kukolich MK, Garcia M, Benjamin TR, Day DW
Clin Genet 1991 Jan;39(1):60-4. doi: 10.1111/j.1399-0004.1991.tb02986.x. PMID: 1997218
Wilson GN, Raj A, Baker D
Am J Med Genet 1985 Feb;20(2):277-82. doi: 10.1002/ajmg.1320200211. PMID: 3976721

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