Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

J Hum Genet 2006 10;51(9):815. Epub 2006 Aug 10.

Laboratoire de génétique médicale, CHU Nancy-Brabois, rue du Morvan, 54511, Vandoeuvre les Nancy, France.

Males with duplications within the short arm of the X chromosome are rare and most cases are inherited from a maternal heterozygote. Here we describe the first detailed characterization of a de-novo Xp duplication delineated to Xp11.22-->Xp11.23 in a 15-year-old male with moderate mental impairment, autistic-like behaviour, short stature, and mild dysmorphic features. Chromosome analysis (550 band resolution) was normal and comparative genomic hybridization (CGH) analysis on metaphase spreads detected duplication on Xp11. Further characterization of the duplication by array CGH, FISH experiments with specific BAC probes, and genotyping with microsatellite markers helped to determine proximal and distal breakpoints giving a size of the duplication of approximately 5 Mb. As far as we are aware this is the first described male with isolated microduplication on Xp11.22-Xp11.23. Among the genes included within the duplicated region, and particularly those which are outside copy number polymorphisms, we discuss the relationship of FTSJ1, PQBP1 and HDAC6 with the clinical symptoms of our patient.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10038-006-0023-3DOI Listing
November 2006
27 Reads

Publication Analysis

Top Keywords

de-novo duplication
8
duplication
5
duplication array
4
array cgh
4
characterization duplication
4
duplication xp11
4
detected duplication
4
cgh fish
4
xp11 characterization
4
experiments specific
4
probes genotyping
4
genotyping microsatellite
4
bac probes
4
specific bac
4
spreads detected
4
fish experiments
4
analysis metaphase
4
analysis 550
4
550 band
4
chromosome analysis
4

References

(Supplied by CrossRef)

KA Adamson et al.
Clin Endocrinol 2002

A Baumstarck et al.
Hum Genet 1996

C Bonnet et al.
Am J Med Genet A 2006

V Bourdon et al.
Ann Genet 2004

C Cianchetti et al.
Am J Med Genet 1992

Y Enokido et al.
Biochem Biophys Res Commun 2002

K Freude et al.
Am J Hum Genet 2004

AJ Iafrate et al.
Nat Genet 2004

VM Kalscheuer et al.
Nat Genet 2003

E Kolomietz et al.
Am J Med Genet A 2005

Similar Publications