1/6. trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis.We describe a further case of trisomy 18 with total cranio-rachischisis and radial agenesis, and report the first case with thoraco-abdominoschisis. We review these rare findings in trisomy 18.- - - - - - - - - - ranking = 1keywords = trisomy (Clic here for more details about this article) |
2/6. trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly.We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly adds support to the theory that genetic material mapping to chromosome band 2p24 is involved in neural tube development. In addition, we propose that a gene on 2p23 may play a role in the morphogenetic patterning of hands and feet.- - - - - - - - - - ranking = 2.6084303508653keywords = partial trisomy, trisomy (Clic here for more details about this article) |
3/6. Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived translocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development.- - - - - - - - - - ranking = 10.542151754326keywords = partial trisomy, trisomy (Clic here for more details about this article) |
4/6. trisomy 20p from maternal translocation and anencephaly. Case report and genetic review.This paper concerns the case of an anencephalus male fetus with partial trisomy 20p product of a maternal translocation 46,XX, t(15;20) (p11.2;p12), ascertained by prenatal diagnosis. A cytogenetic review of previous cases is presented. Several hypotheses are discussed in order to explain the recurrent abortions of the mother and the aetiology of anencephaly in this last pregnancy.- - - - - - - - - - ranking = 2.1084303508653keywords = partial trisomy, trisomy (Clic here for more details about this article) |
5/6. anencephaly in trisomy 18 associated with elevated alpha-1-fetoprotein in amniotic fluid.Elevated levels of alpha-1-fetoprotein (AFP) were found in the amniotic fluid of a 36-year-old woman in the 15th week of gestation. Because of this and the results of repeated ultrasonography, abortion was induced. An anencephalic fetus with trisomy 18 was delivered. The possible correlation among neural-tube defects, chromosomal abnormalities, and level of AFP is discussed.- - - - - - - - - - ranking = 2.5keywords = trisomy (Clic here for more details about this article) |
6/6. A report of recurrent anencephaly with trisomy 2p23-2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis.A woman carrying a balanced reciprocal translocation, 46,XX,t(2;5)(p23;p15)pat, was ascertained following the delivery of an anencephalic fetus whose karyotype was 46,XY,5p . She subsequently had two pregnancies with a similar unbalanced karyotype (trisomy 2p23-2pter and monosomy 5p15-5pter), one of which was also anencephalic. She has three living children, two of whom are balanced translocation carriers. This history raises questions regarding the necessity of cytogenetic assessment of cases identified by ultrasound with 'isolated' neural tube defects. The observation of duplication of the 2p23-2pter region in conjunction with anencephaly also adds to the growing body of evidence suggesting an association of this region and neural tube development.- - - - - - - - - - ranking = 2.5keywords = trisomy (Clic here for more details about this article) |