Search results for "Nondisjunction"
showing 2 items of 2 documents
Pseudo-exclusion from paternity due to maternal uniparental disomy 16.
1998
The investigation of a case of disputed paternity revealed indirect exclusion of the alleged father in the haptoglobin system and in the DNA single-locus system D16S309/Hinf I (MS205). The paternity index for the non-exclusion systems was > 10(6). Since both exclusion systems (HP and MS205) are located on chromosome 16, we investigated 10 microsatellite loci covering this chromosome with 10-20 cM resolution. Analysis of the child's chromosome showed only alleles of maternal origin and lack of inheritance of paternal alleles for five informative loci. The markers close to the centromere of chromosome 16 were heterozygous, whereas distal loci were either heterozygous or homozygous for materna…
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
2012
A case of neonatal diagnosis of 49,XXXXY syndrome is presented. Clinical identification was prompted by a bilateral thickening of the radioulnar joints and X-ray imaging disclosing almost complete radioulnar synostosis. Conventional karyotyping was initiated and revealed a karyotype of 49,XXXXY. Previously reported neonatal symptoms such as low birth weight, muscular hypotonia, or genital malformations were absent in this case. Microsatellite analysis showed two different X chromosomes each present in two copies, supporting that the four X chromosomes had arisen from a nondisjunction in maternal meiosis I followed by a second nondisjunction involving both X chromosomes in meiosis II. Multid…