Title: Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations
Authors: Nothwang, H G ×
Schröer, A
van der Maarel, S
Kübart, S
Schneider, S
Riesselmann, L
Menzel, C
Hinzmann, B
Vogt, D
Rosenthal, A
Fryns, Jean-Pierre
Tommerup, N
Haaf, T
Ropers, H H
Wirth, J #
Issue Date: 2000
Series Title: Cytogenetics and cell genetics vol:90 issue:1-2 pages:126-33
Abstract: Mental retardation is a very common and extremely heterogeneous disorder that affects about 3% of the human population. Its molecular basis is largely unknown, but many loci have been mapped to the X chromosome. We report on two mentally retarded females with X;autosome translocations and breakpoints in Xp11, viz., t(X;17)(p11;p13) and t(X;20)(p11;q13). (Fiber-) FISH analysis assigned the breakpoints to different subbands, Xp11.4 and Xp11.23, separated by approximately 8 Mb. High-resolution mapping of the X- chromosome breakpoints using Southern blot hybridization resulted in the isolation of breakpoint-spanning genomic subclones of 3 kb and 0. 5 kb. The Xp11.4 breakpoint is contained within a single copy sequence, whereas the Xp11.23 breakpoint sequence resembles an L1 repetitive element. Several expressed sequences map close to the breakpoints, but none was found to be inactivated. Therefore, mechanisms other than disruption of X-chromosome genes likely cause the phenotypes.
ISSN: 0301-0171
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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