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Related to robertsonian translocation: mosaicism
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3), pat Robertsonian translocation (*) Inversion 46,XN, inv(9)(p11,q13) x2 sSMC Variant 46,XN, 1qh+ Numerical anomalies Amniocentesis Number 47,XN, +21 48 73 47,XN, +18 13 24 47,XN, +13 1 3 45,X 1 4 47,XN, +17 1 2 47,XN, +7 1 47,XXX 2 2 47,XXY (Klinefelter syndrome) (*) 2 69,XXX 1 1 Structural anomalies Reciprocal translocation 46,XN, t(9;20)(p13;q15.
A homozygote carrier of a Robertsonian translocation (13q;14q) was reported in this paper who was phenotypically normal.
When one parent is carrier of Robertsonian translocation 21q; 21q, it has 100% chance of having a Down syndrome child as all of its produced gametes are unbalanced.
Robertsonian translocations in mice: segregation irregularities in male heterozygotes and zygotic unbalance.
We have thus demonstrated for the first time that Down syndrome due to unbalanced robertsonian translocation can be detected by sequencing maternal plasma DNA.
Robertsonian translocations in mice segregation irregularities in male heterozygotes and zygotic unbalance.
In the present study, we report a Robertsonian translocation rob (14; 15) in a female patient with a history of repeated abortions.
The most common types of karyotypic abnormality include sex chromosomal abnormalities and Robertsonian translocations.
Furthermore, use of this locus should enable the detection of unbalanced Robertsonian translocations involving the Down's region of chromosome 21, which occur in ~4% of Down syndrome cases (6).
The first is a reinforcement of previous observations that karyotype evolution in mosquitoes has involved several significant structural changes, mostly Robertsonian translocations and paracentric inversions.