Balanced complex chromosomal rearrangements with more than four breakpoints: report of a new case.
Congenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30-month-old boy with mental retardation and minor anomalies. This CCR consists in a 3-way reciprocal translocation (2;3;16) and an insertion (6;7), as it was analyzed by different banding and high resolution techniques. It involves 6 breakpoints: 2q11, 13q12, 16p11, 6p21.3, 7q21.3 and 7q35.
Till
M
M
Division of Cytogenetics and Hematology, Hôpital Nord, St-Priest-en-Jarez, France.
Devillard
F
F
Crost
P
P
Bachy
M
M
Prieur
F
F
Berthéas
M F
MF
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002885:Chromosomes, Human, Pair 16; D002889:Chromosomes, Human, Pair 2; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics