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Ten years follow up of a boy with a complex chromosomal rearrangement: Going from a > 5 to 15‐breakpoint CCR
Author(s) -
Houge Gunnar,
Liehr Thomas,
Schoumans Jacqueline,
Ness Gro O.,
Solland Kjetil,
Starke Heike,
Claussen Uwe,
Strømme Petter,
Åkre Bjug,
Vermeulen Stefan
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10106
Subject(s) - breakpoint , chromosomal rearrangement , history , genetics , genealogy , biology , chromosomal translocation , karyotype , chromosome , gene
A moderately mentally retarded 10‐year‐old boy of very short stature was found initially to have a complex chromosomal rearrangement (CCR) involving chromosome 1, 2, 3, 4, and 8. A balanced twelve‐breakpoint CCR was suggested after extensive investigations including subtelomere FISH, whole chromosome paints, comparative genomic hybridization (CGH), multicolor FISH (MFISH), and spectral karyotyping (SKY). SKY and MFISH gave slightly discrepant results. For further clarification of the karyotype, multicolor banding (MCB) analysis and FISH with region‐specific YAC probes were done. This allowed clarification of a sixteen‐fragment CCR to be made, the most complex constitutional chromosomal rearrangement reported so far. Remarkably, two ‘secondary’ insertions originated from the interior of a ‘primary’ insertion by an excision/duplication event. The randomness of the fragments and the complexity of the derivative chromosomes suggest that this CCR is the result of a single meiotic event, e.g., faulty repair of a five‐chromosome knot. © 2003 Wiley‐Liss, Inc.