Review
. 1991 Jun 1;39(3):332-5; discussion 336-7.
doi: 10.1002/ajmg.1320390316.
Pseudo-trisomy 13 syndrome
Affiliations
- PMID: 1867286
- DOI: 10.1002/ajmg.1320390316
Item in Clipboard
Review
Pseudo-trisomy 13 syndrome
Am J Med Genet.
.
Abstract
We have coined the term "pseudo-trisomy 13 syndrome" to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. Eleven instances are summarized. Two pairs of sibs and two other cases with consanguinity suggest autosomal recessive inheritance. Autosomal recessive inheritance is possible. Alternately, an undetected microdeletion and etiologic heterogeneity (some cases possibly representing dominant new mutations) must be considered. Further delineation is necessary. It is hoped that this paper will serve as a focus for further discussion of the problem.
Comment in
-
Pseudotrisomy 13 syndrome.Am J Med Genet. 1992 Jun 1;43(3):633-8. doi: 10.1002/ajmg.1320430330. Am J Med Genet. 1992. PMID: 1605265 No abstract available.
Similar articles
-
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.Turk J Pediatr. 2008 May-Jun;50(3):287-90. Turk J Pediatr. 2008. PMID: 18773678
-
Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.Am J Med Genet. 1994 Apr 1;50(2):177-9. doi: 10.1002/ajmg.1320500208. Am J Med Genet. 1994. PMID: 8010349
-
Familial holoprosencephaly, heart defects, and polydactyly.Am J Med Genet. 1991 Nov 1;41(2):258-62. doi: 10.1002/ajmg.1320410226. Am J Med Genet. 1991. PMID: 1785646 Review.
-
"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.Am J Med Genet. 1993 Sep 1;47(3):405-9. doi: 10.1002/ajmg.1320470322. Am J Med Genet. 1993. PMID: 8135289 Review.
-
Pseudo-trisomy 13 syndrome: report of one case.Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Nov-Dec;33(6):441-5. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992. PMID: 1306929
Cited by
-
Pseudotrisomy 13 and autosomal recessive holoprosencephaly.J Med Genet. 1993 Nov;30(11):970-1. doi: 10.1136/jmg.30.11.970. J Med Genet. 1993. PMID: 8301659 Free PMC article.
-
Pallister-Hall syndrome.J Med Genet. 1996 Jul;33(7):585-9. doi: 10.1136/jmg.33.7.585. J Med Genet. 1996. PMID: 8818945 Free PMC article. No abstract available.
-
Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.Clin Dysmorphol. 2012 Oct;21(4):183-190. doi: 10.1097/MCD.0b013e3283551fd0. Clin Dysmorphol. 2012. PMID: 22643382 Free PMC article. Review.
-
Syndromes associated with holoprosencephaly.Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):229-237. doi: 10.1002/ajmg.c.31620. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29770994 Free PMC article.
-
Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):344-57. doi: 10.1002/ajmg.c.30323. Epub 2011 Oct 17. Am J Med Genet C Semin Med Genet. 2011. PMID: 22006661 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources