Exceptional complex chromosomal rearrangements in three generations.
We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband's mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband's mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother's and grandmother's CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Hannie
H
Kartapradja
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Nanis Sacharina
NS
Marzuki
Victorian Clinical Genetics Services (VCGS), Royal Children's Hospital, Flemington Road, Melbourne, VIC 3052, Australia.
Mark D
MD
Pertile
Victorian Clinical Genetics Services (VCGS), Royal Children's Hospital, Flemington Road, Melbourne, VIC 3052, Australia.
David
D
Francis
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Lita Putri
LP
Suciati
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Helena Woro
HW
Anggaratri
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Debby Dwi
DD
Ambarwati
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Firman Prathama
FP
Idris
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Harry
H
Lesmana
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia ; Agency for the Assessment and Application of Technology, Jl. MH Thamrin 8, Jakarta 10340, Indonesia.
Hidayat
H
Trimarsanto
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Chrysantine
C
Paramayuda
Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.
Alida Roswita
AR
Harahap