TY - JOUR
T1 - Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-Arm translocation
AU - Pota, Pruthvi
AU - Grammatopoulou, Vasiliki
AU - Torti, Erin
AU - Braddock, Stephen
AU - Batanian, Jacqueline R.
N1 - Publisher Copyright:
© 2015 S. Karger AG, Basel.
PY - 2014/4/24
Y1 - 2014/4/24
N2 - Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.
AB - Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.
KW - Chromosome instability
KW - Isochromosome 4p
KW - Trisomy 4p syndrome
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U2 - 10.1159/000371606
DO - 10.1159/000371606
M3 - Article
C2 - 25632983
AN - SCOPUS:84928585594
SN - 1424-8581
VL - 144
SP - 280
EP - 284
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
IS - 4
ER -