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Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family.
Am J Med Genet. 1983 Sep; 16(1):35-42.AJ

Abstract

We report on an Amish family with five individuals in two generations with complex congenital heart disease. Autopsy findings in one and clinical examination in the others support the diagnosis of polysplenia "syndrome." In a mouse model, this spectrum of situs abnormalities and cardiovascular defects shows recessive inheritance with homozygotes having either situs solitus or situs inversus or ambiguous situs. The parents of the four affected sibs are fourth cousins. We think that the father of these four children is an affected but clinically normal homozygote, that his deceased sister was an affected homozygote, and it seems likely that they too had consanguinous parents.

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Publisher Full Text

Authors

Arnold GL
No affiliation info available
Bixler D
No affiliation info available
Girod D
No affiliation info available

MeSH

Abnormalities, MultipleAdultConsanguinityFemaleGenes, RecessiveHeart Defects, CongenitalHumansInfantInfant, NewbornMalePedigreeSitus InversusSpleenSyndrome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6638068

Citation

Arnold, G L., et al. "Probable Autosomal Recessive Inheritance of Polysplenia, Situs Inversus and Cardiac Defects in an Amish Family." American Journal of Medical Genetics, vol. 16, no. 1, 1983, pp. 35-42.
Arnold GL, Bixler D, Girod D. Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. Am J Med Genet. 1983;16(1):35-42.
Arnold, G. L., Bixler, D., & Girod, D. (1983). Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. American Journal of Medical Genetics, 16(1), 35-42.
Arnold GL, Bixler D, Girod D. Probable Autosomal Recessive Inheritance of Polysplenia, Situs Inversus and Cardiac Defects in an Amish Family. Am J Med Genet. 1983;16(1):35-42. PubMed PMID: 6638068.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. AU - Arnold,G L, AU - Bixler,D, AU - Girod,D, PY - 1983/9/1/pubmed PY - 1983/9/1/medline PY - 1983/9/1/entrez SP - 35 EP - 42 JF - American journal of medical genetics JO - Am J Med Genet VL - 16 IS - 1 N2 - We report on an Amish family with five individuals in two generations with complex congenital heart disease. Autopsy findings in one and clinical examination in the others support the diagnosis of polysplenia "syndrome." In a mouse model, this spectrum of situs abnormalities and cardiovascular defects shows recessive inheritance with homozygotes having either situs solitus or situs inversus or ambiguous situs. The parents of the four affected sibs are fourth cousins. We think that the father of these four children is an affected but clinically normal homozygote, that his deceased sister was an affected homozygote, and it seems likely that they too had consanguinous parents. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6638068/Probable_autosomal_recessive_inheritance_of_polysplenia_situs_inversus_and_cardiac_defects_in_an_Amish_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=16&issue=1&spage=35 DB - PRIME DP - Unbound Medicine ER -