Defects of blastogenesis: Counseling dilemmas in two families

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dc.contributor.authorDe Jong G.
dc.contributor.authorKirby P.A.
dc.date.accessioned2011-05-15T16:15:21Z
dc.date.available2011-05-15T16:15:21Z
dc.date.issued2000
dc.description.abstractThree patients are described with defects of blastogenesis and predominantly midline defects. Two were sibs of whom the firstborn were female cephalothoracopagusconjoined twins with multiple predominantly midline defects initially thought to be a sporadic occurrence. A subsequent brother presented with severe hydrocephalus, rhombencephalosynapsis, conotruncal defect, ambiguous genitalia, and unilateral pre-axial polydactyly; an autosomal recessive defect is postulated in this case. Patient 3 had hydrocephalus, small cerebellum, cleft lip and palate, and a large sacrococcygeal teratoma, the better differentiated part of which included ovarian tissue with primordial follicles. The latter may occur in incomplete twinning as a defect of blastogenesis. The mother had had a previous termination of a fetus with hydrocephalus from a different relationship. Counseling was difficult since no examinations were done on the previous fetus and no further investigations of this family could be obtained, but a genetic origin is suspected. Most defects of blastogenesis are sporadic; however, some cases have a genetic cause and ultrasound examinations should be offered in subsequent pregnancies. (C) 2000 Wiley-Liss, Inc.
dc.description.versionArticle
dc.identifier.citationAmerican Journal of Medical Genetics
dc.identifier.citation91
dc.identifier.citation3
dc.identifier.issn01487299
dc.identifier.other10.1002/(SICI)1096-8628(20000320)91:3<175::AID-AJMG3>3.0.CO;2-S
dc.identifier.urihttp://hdl.handle.net/10019.1/13299
dc.subjectarticle
dc.subjectautosomal recessive inheritance
dc.subjectcase report
dc.subjectcleft lip palate
dc.subjectclinical feature
dc.subjectfetus
dc.subjectgenetic counseling
dc.subjecthuman
dc.subjecthydrocephalus
dc.subjectlymphocyte transformation
dc.subjectmale
dc.subjectpolydactyly
dc.subjectpriority journal
dc.subjectsacrococcyx teratoma
dc.subjectAbnormalities, Multiple
dc.subjectAdult
dc.subjectBlastocyst
dc.subjectFemale
dc.subjectGenetic Counseling
dc.subjectHumans
dc.subjectHydrocephalus
dc.subjectMale
dc.subjectPregnancy
dc.subjectTwins, Conjoined
dc.subjectUltrasonography, Prenatal
dc.subjectRaphia frater
dc.titleDefects of blastogenesis: Counseling dilemmas in two families
dc.typeArticle
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