Genetic Variation Affects de Novo Translocation Frequency

Genetic variation affects de novo translocation frequency.

Translocation is one of the most frequently occurring human chromosomal aberrations. The constitutional t(11;22)(q23;q11), which is the only known recurrent non-Robertsonian translocation, represents a good model for studying translocations in humans. Here we demonstrate polymorphisms of the palindromic sequence at the t(11;22) breakpoint that affect the frequency of de novo translocations in s...

Translocation Mongolism Arising de Novo?

A de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure

A de novo X;13 translocation with abnormal phenotype.

We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.

Parental mosaicism in de novo translocation (21q21q) Down's syndrome.

Parental mosaicism for t(21q21q) has been found in six out of 11 families in which recurrence of a de novo 2lq2lq translocation Down's syndrome was observed. 1-3 Therefore, Hall' proposed that in the parents of children with de novo 21q21q Down's syndrome the analysis of additional cells and also skin fibroblasts studies should be considered for the detection of cryptic mosaicism. Support for t...