J Med Genet. 1988 Apr;25(4):227-9.

A family showing apparent X linked inheritance of both anencephaly and spina bifida.

Jensson O, Arnason A, Gunnarsdottir H, Petursdottir I, Fossdal R, Hreidarsson S.

Source

Blood Bank, National University Hospitals, Reykjavik, Iceland.

Abstract

A family is reported which includes five males, two with spina bifida, two sibs with anencephaly, and one with both high and low spinal lesions. The affected subjects came from four sibships in three generations. The mode of inheritance of these neural tube defects is consistent with X linkage.

PMID:: 3285008; [PubMed - indexed for MEDLINE]
PMCID:: PMC1015501

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Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred. [Am J Med Genet. 1980]
Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred.
Toriello HV, Warren ST, Lindstrom JA. Am J Med Genet. 1980; 6(2):119-21.
Report of a third kindred with X-linked anencephaly/spina bifida. [Am J Med Genet. 1984]
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Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects. [Clin Genet. 1994]
Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects.
Newton R, Stanier P, Loughna S, Henderson DJ, Forbes SA, Farrall M, Jensson O, Moore GE. Clin Genet. 1994 May; 45(5):241-9.
Review X chromosome genes involved in the regulation of facial clefting and spina bifida. [Cleft Palate J. 1990]
Review X chromosome genes involved in the regulation of facial clefting and spina bifida.
Moore GE, Ivens A, Newton R, Balacs MA, Henderson DJ, Jensson O. Cleft Palate J. 1990 Apr; 27(2):131-5.
Review Genetic aspects of neural tube defects. [UCLA Forum Med Sci. 1978]
Review Genetic aspects of neural tube defects.
Cederbaum SD. UCLA Forum Med Sci. 1978; 20:91-7.

See reviews... See all...

Cited by 3 PubMed Central articles

Absence of linkage between familial neural tube defects and PAX3 gene. [J Med Genet. 1995]
Absence of linkage between familial neural tube defects and PAX3 gene.
Chatkupt S, Hol FA, Shugart YY, Geurds MP, Stenroos ES, Koenigsberger MR, Hamel BC, Johnson WG, Mariman EC. J Med Genet. 1995 Mar; 32(3):200-4.
Review Molecular approaches to dysmorphology. [J Med Genet. 1988]
Review Molecular approaches to dysmorphology.
Ivens A, Moore G, Williamson R. J Med Genet. 1988 Jul; 25(7):473-9.
Sex ratios of affected and transmitting members of multiple case families with neural tube defects. [J Med Genet. 1992]
Sex ratios of affected and transmitting members of multiple case families with neural tube defects.
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J Med Genet. 1988 Apr ;25(4):227-9.

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