Case Reports
doi: 10.1002/ajmg.1320590409.
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)
Affiliations
- PMID: 8585563
- DOI: 10.1002/ajmg.1320590409
Item in Clipboard
Case Reports
Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)
Am J Med Genet.
.
Abstract
We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17) (q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, parental diagnosis using FISH is feasible.
Comment in
-
Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome.Am J Med Genet. 1997 Aug 8;71(2):236-7. doi: 10.1002/(sici)1096-8628(19970808)71:2<236::aid-ajmg24>3.0.co;2-e. Am J Med Genet. 1997. PMID: 9217231 No abstract available.
Similar articles
-
Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring.Am J Dis Child. 1993 Dec;147(12):1291-4. doi: 10.1001/archpedi.1993.02160360033012. Am J Dis Child. 1993. PMID: 8249946
-
Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.Korean J Lab Med. 2011 Jan;31(1):49-53. doi: 10.3343/kjlm.2011.31.1.49. Korean J Lab Med. 2011. PMID: 21239872 Free PMC article.
-
Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome.J Pediatr Hematol Oncol. 2008 Nov;30(11):865-8. doi: 10.1097/MPH.0b013e31818a958a. J Pediatr Hematol Oncol. 2008. PMID: 18989166
-
Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis.Am J Med Genet. 1996 Oct 2;65(1):60-7. doi: 10.1002/(SICI)1096-8628(19961002)65:1<60::AID-AJMG10>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8914743 Review.
-
Ring chromosome 17. Case report and review of the literature.Ann Genet. 1992;35(2):75-8. Ann Genet. 1992. PMID: 1381884 Review.
Cited by
-
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.J Med Genet. 1998 Mar;35(3):225-33. doi: 10.1136/jmg.35.3.225. J Med Genet. 1998. PMID: 9541108 Free PMC article.
-
Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.Am J Med Genet A. 2025 Mar;197(3):e63925. doi: 10.1002/ajmg.a.63925. Epub 2024 Nov 8. Am J Med Genet A. 2025. PMID: 39513527 Free PMC article.
-
Telomeres: a diagnosis at the end of the chromosomes.J Med Genet. 2003 Jun;40(6):385-98. doi: 10.1136/jmg.40.6.385. J Med Genet. 2003. PMID: 12807958 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Research Materials