Literature DB >> 7118555

Genetic counselling in holoprosencephaly.

U Burck.   

Abstract

According to the etiological factors the various possibilities of genetic counselling in holoprosencephaly are discussed. In each type of holoprosencephaly a chromosomal analysis is indispensable. Prenatal chromosomal examination of subsequent pregnancies is indicated when dealing with a chromosomal aberration. Fetoscopy is useful under certain conditions. In addition, because of possibly associated neural tube defects, alpha 1-fetoprotein should be determined.

Entities:  

Mesh：

Year:  1982        PMID： 7118555

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


  3 in total

1.  The pathology of trisomy 13 syndrome. A study of 12 cases.

Authors:  P Moerman; J P Fryns; K van der Steen; A Kleczkowska; J Lauweryns
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

Review 2.  Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors:  A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

3.  Prenatal ultrasonographic diagnosis of holoprosencephaly. Two cases of cebocephaly and two of cyclopia.

Authors:  A Schinzel; G Savoldelli; J Briner; W Schmid
Journal:  Arch Gynecol       Date:  1984
  3 in total

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