1/7. Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.It has been postulated that the deletion of band 13q22 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phenotype depending on which is the unbalanced chromosome in the karyotype. When a partial trisomy of 13q22-->qter is present, the fetuses have polydactyly in the four limbs, and when the fetus is carrying a partial monosomy of this portion, an oligodactyly in all members can be observed.- - - - - - - - - - ranking = 1keywords = partial trisomy, trisomy (Clic here for more details about this article) |
2/7. 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 = 0.58152360924248keywords = partial trisomy, trisomy (Clic here for more details about this article) |
3/7. Pseudotrisomy 13 syndrome in siblings.We describe a brother and sister who both had holoprosencephaly, polydactyly, cardiac lesions and a normal karyotype. The parents were first cousins and a diagnosis of pseudotrisomy 13 syndrome is suggested. This report provides further support that the inheritance of pseudotrisomy 13 syndrome is autosomal recessive.- - - - - - - - - - ranking = 0.83695278151504keywords = trisomy (Clic here for more details about this article) |
4/7. Partial trisomy 13 with features similar to C syndrome.We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Genetic counselling of the family for reproductive risks and testing siblings of the mother for detection of balanced carriers is essential.- - - - - - - - - - ranking = 1keywords = partial trisomy, trisomy (Clic here for more details about this article) |
5/7. Pseudotrisomy 13: clinical findings and genetic implications.The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of pseudotrisomy 13 in three siblings suggesting autosomal recessive inheritance of this syndrome. Clinical overlap with hydrolethalus syndrome, smith-lemli-opitz syndrome, Meckel syndrome, and pallister-hall syndrome is discussed.- - - - - - - - - - ranking = 0.83695278151504keywords = trisomy (Clic here for more details about this article) |
6/7. Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.We report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX karyotype. We also reviewed 22 karyotypically normal cases whose clinical features resembled trisomy 13 syndrome and compared them with the case we present. The problem of variable expression of the pseudotrisomy 13 syndrome versus genetic heterogeneity is illustrated.- - - - - - - - - - ranking = 0.83695278151504keywords = trisomy (Clic here for more details about this article) |
7/7. Pseudotrisomy 13 and autosomal recessive holoprosencephaly.Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.- - - - - - - - - - ranking = 0.69746065126253keywords = trisomy (Clic here for more details about this article) |