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Autosomal anomaly

MedGen UID:
1843454
•Concept ID:
C5681496
•
Cell or Molecular Dysfunction
Synonyms: autosomal anomaly; autosome chromosomal anomaly; chromosomal anomaly of autosome
 
Monarch Initiative: MONDO:0020049

Definition

Chromosomal disorder in which the chromosomal anomaly involves an autosome. [from MONDO]

Professional guidelines

PubMed

Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016

Recent clinical studies

Etiology

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.
Riccetto L, Vieira TP, Viguetti-Campos NL, Mazzola TN, Guaragna MS, Fabbri-Scallet H, Mello MP, Marques-de-Faria AP, Maciel-Guerra AT, Guerra Junior G
Sao Paulo Med J 2022;141(4):e2022281. Epub 2022 Nov 28 doi: 10.1590/1516-3180.2022.0281.R1.30082022. PMID: 36449967Free PMC Article
Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis.
Broda CR, Cabrera AG, Rossano JW, Jefferies JL, Towbin JA, Chin C, Shamszad P
J Heart Lung Transplant 2018 Jun;37(6):749-754. Epub 2018 Jan 31 doi: 10.1016/j.healun.2018.01.1296. PMID: 29449075
Chromosome studies in male patients suffering from infertility.
Yasseen AA, Aunuiz A, Al-Musawi MN
Saudi Med J 2001 Mar;22(3):223-6. PMID: 11307107
The prevalence of chromosome abnormalities among mentally retarded persons in a geographically delimited area of Denmark.
Rasmussen K, Nielsen J, Dahl G
Clin Genet 1982 Nov;22(5):244-55. doi: 10.1111/j.1399-0004.1982.tb01441.x. PMID: 6217930

Diagnosis

Hand-foot-genital syndrome - analysis of two cases.
Piazza MJ, Urbanetz AA
JBRA Assist Reprod 2018 Jun 1;22(2):157-159. doi: 10.5935/1518-0557.20180025. PMID: 29638102Free PMC Article
Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis.
Broda CR, Cabrera AG, Rossano JW, Jefferies JL, Towbin JA, Chin C, Shamszad P
J Heart Lung Transplant 2018 Jun;37(6):749-754. Epub 2018 Jan 31 doi: 10.1016/j.healun.2018.01.1296. PMID: 29449075
The challenging trisomy 16: a case report.
Kontomanolis EN, Lambropoulou M, Georgiadis A, Gramatikopoulou I, Deftereou TH, Galazios G
Clin Exp Obstet Gynecol 2012;39(3):412-3. PMID: 23157062
Trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature.
Morel F, Le Bris MJ, Herry A, Morice P, De Braekeleer M
Leuk Lymphoma 2003 Mar;44(3):549-51. doi: 10.1080/1042819021000055084. PMID: 12688332
Chromosome studies in male patients suffering from infertility.
Yasseen AA, Aunuiz A, Al-Musawi MN
Saudi Med J 2001 Mar;22(3):223-6. PMID: 11307107

Therapy

Trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature.
Morel F, Le Bris MJ, Herry A, Morice P, De Braekeleer M
Leuk Lymphoma 2003 Mar;44(3):549-51. doi: 10.1080/1042819021000055084. PMID: 12688332

Prognosis

Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis.
Broda CR, Cabrera AG, Rossano JW, Jefferies JL, Towbin JA, Chin C, Shamszad P
J Heart Lung Transplant 2018 Jun;37(6):749-754. Epub 2018 Jan 31 doi: 10.1016/j.healun.2018.01.1296. PMID: 29449075
Trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature.
Morel F, Le Bris MJ, Herry A, Morice P, De Braekeleer M
Leuk Lymphoma 2003 Mar;44(3):549-51. doi: 10.1080/1042819021000055084. PMID: 12688332

Clinical prediction guides

Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report.
Kalayinia S, Shahani T, Biglari A, Maleki M, Rokni-Zadeh H, Razavi Z, Mahdieh N
J Clin Lab Anal 2019 Feb;33(2):e22663. Epub 2018 Sep 26 doi: 10.1002/jcla.22663. PMID: 30259573Free PMC Article
Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature.
Astner A, Schwinger E, Caliebe A, Jonat W, Gembruch U
Prenat Diagn 1998 Dec;18(12):1308-15. PMID: 9885025
Chromosomal anomalies in cryptorchidism.
Sasagawa I, Nakada T, Ishigooka M, Sawamura T, Adachi Y, Hashimoto T
Int Urol Nephrol 1996;28(1):99-102. doi: 10.1007/BF02550145. PMID: 8738627

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