Literature DB >> 381663

May spina bifida result from an X-linked defect in a selective abortion mechanism?

J Burn, D Gibbens.   

Abstract

It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.

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Year:  1979        PMID: 381663      PMCID: PMC1012693          DOI: 10.1136/jmg.16.3.210

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  25 in total

1.  A three year's study of anencephaly in Dublin: a report on 181 cases.

Authors:  V P COFFEY; W J JESSOP
Journal:  Ir J Med Sci       Date:  1958-09       Impact factor: 1.568

2.  Spina bifida and anencephaly: are miscarriages a possible cause?

Authors:  K M Laurence; C J Roberts
Journal:  Br Med J       Date:  1977-08-06

Review 3.  Causation of neural tube defects: clues from epidemiology.

Authors:  I Leck
Journal:  Br Med Bull       Date:  1974-05       Impact factor: 4.291

4.  Children of adult survivors with spina bifida cystica.

Authors:  C O Carter; K Evans
Journal:  Lancet       Date:  1973-10-27       Impact factor: 79.321

5.  Prostaglandin administration for induction of mid-trimester abortion in complicated pregnancies.

Authors:  M Toppozada; M Bygdeman; N Wiqvist
Journal:  Lancet       Date:  1972-12-30       Impact factor: 79.321

6.  The multifactorial/threshold concept -- uses and misuses.

Authors:  F C Fraser
Journal:  Teratology       Date:  1976-12

7.  Birth ranks of spontaneous abortions in sibships of children affected by anencephaly or spina bifida.

Authors:  W H James
Journal:  Br Med J       Date:  1978-01-14

8.  The variation of endometrial acid phosphatase activity with the menstrual cycle.

Authors:  L Bitensky; S Cohen
Journal:  J Obstet Gynaecol Br Commonw       Date:  1965-10

9.  Area differences in spontaneous abortion rates in South Wales and their relation to neural tube defect incidence.

Authors:  C J Roberts; S Lloyd
Journal:  Br Med J       Date:  1973-10-06

10.  Anencephaly and spina bifida: an etiologic hypothesis.

Authors:  W E Nance
Journal:  Birth Defects Orig Artic Ser       Date:  1971-02
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  2 in total

1.  Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation.

Authors:  F A Brook; J P Estibeiro; A J Copp
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

2.  Spina bifida and the sex ratio.

Authors: 
Journal:  Br Med J       Date:  1980-04-26
  2 in total

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