Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).
نویسندگان
چکیده
A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosencephaly in monosomy 18p (10% of previously reported cases) may not be the result of the expression of a recessive mutant gene in the hemizygous state, as assumed up to now.
منابع مشابه
Familial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype.
Balanced chromosome translocations in either parent increase the risk of recurrent miscarriage, unbalanced chromosome rearrangements, congenital malformations, and mental retardation in liveborn offspring. Chromosome aberrations account for at least 50% of fetal losses prior to 15 weeks’ estimated gestation (EGA). Of these, 60% occur secondary to autosomal trisomies (Gardner and Sutherland, 200...
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Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromoso...
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A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues. The few abnormal features seen in the fetus may represent a mild expression of the 18p-- phenotype inhibiting the effects o...
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عنوان ژورنال:
- Journal of medical genetics
دوره 20 5 شماره
صفحات -
تاریخ انتشار 1983