Case Reports
doi: 10.1056/NEJM199203193261206.
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
Affiliations
- PMID: 1538725
- DOI: 10.1056/NEJM199203193261206
Item in Clipboard
Case Reports
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
N Engl J Med.
.
Free article
No abstract available
Comment in
-
Genomic imprinting and its clinical implications.N Engl J Med. 1992 Mar 19;326(12):827-9. doi: 10.1056/NEJM199203193261210. N Engl J Med. 1992. PMID: 1538729 No abstract available.
Similar articles
-
Genomic imprinting and its clinical implications.N Engl J Med. 1992 Mar 19;326(12):827-9. doi: 10.1056/NEJM199203193261210. N Engl J Med. 1992. PMID: 1538729 No abstract available.
-
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.Am J Med Genet. 1993 Oct 1;47(5):683-6. doi: 10.1002/ajmg.1320470519. Am J Med Genet. 1993. PMID: 8266996
-
Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome.Am J Med Genet. 1992 Jan 1;42(1):109-11. doi: 10.1002/ajmg.1320420122. Am J Med Genet. 1992. PMID: 1308348
-
Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview.Am J Med Genet. 1993 Apr 1;46(1):2-6. doi: 10.1002/ajmg.1320460103. Am J Med Genet. 1993. PMID: 8388170 Review.
-
Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.Eur J Paediatr Neurol. 2000;4(1):39-43. doi: 10.1053/ejpn.1999.0259. Eur J Paediatr Neurol. 2000. PMID: 10701104 Review.
Cited by
-
A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.Hum Genet. 1992 Sep-Oct;90(1-2):91-8. doi: 10.1007/BF00210750. Hum Genet. 1992. PMID: 1427794
-
Recurrence of Angelman syndrome in siblings: challenges in genetic counseling.Indian J Pediatr. 2014 Mar;81(3):292-5. doi: 10.1007/s12098-013-1292-4. Epub 2013 Nov 28. Indian J Pediatr. 2014. PMID: 24288033
-
De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.Am J Hum Genet. 1993 Sep;53(3):629-37. Am J Hum Genet. 1993. PMID: 8352273 Free PMC article.
-
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.J Med Genet. 2001 Dec;38(12):834-45. doi: 10.1136/jmg.38.12.834. J Med Genet. 2001. PMID: 11748306 Free PMC article.
-
A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.Am J Hum Genet. 1995 Jan;56(1):302-9. Am J Hum Genet. 1995. PMID: 7825591 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
