Premium
Involvement of a palindromic chromosome 22‐specific low‐copy repeat in a constitutional t(X; 22)(q27;q11)
Author(s) -
Debeer P,
Mols R,
Huysmans C,
Devriendt K,
Van de Ven WJM,
Fryns JP
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.620510.x
Subject(s) - breakpoint , palindrome , genetics , biology , chromosomal translocation , chromosome , chromosomal rearrangement , palindromic sequence , gene duplication , chromosome engineering , gene , chromosome 22 , chromosome 21 , microbiology and biotechnology , karyotype , genome
Segmental duplications or low‐copy repeats (LCRs) on chromosome 22q11 have been implicated in several chromosomal rearrangements. The presence of AT‐rich regions in these duplications may lead to the formation of hairpin structures, which facilitate chromosomal rearrangement. Here we report the involvement of such a low‐copy repeat in a t(X;22) associated with a neural tube defect. Molecular analysis of the chromosomal breakpoints revealed that the chromosome 22 breakpoint maps in the palindromic non‐AT‐rich NF1 ‐like region of low‐copy repeat B (LCR‐B). No palindromic region was encountered near the breakpoint on chromosome X. Our findings confirm that there is no single mechanism leading to translocations with chromosome 22q11 involvement. Because LCR‐B does not contain genes involved in neural tube development, we believe that the gene responsible for the observed phenotype is most likely localized on chromosome X.