14 research outputs found
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction
We report a case of Angelman syndrome (AS) with paternal uniparental
disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had
frequent, but only provoked laughter, was mildly ataxic with limb
hypertonia, and had no intelligible speech. She had deep-set eyes,
protruding tongue, and prominent chin. The karyotype was normal. DNA
analysis with microsatellites from chromosome 15 showed no inheritance
of maternal alleles both within and outside the AS critical region.
Proximal markers showed reduction to homozygosity of paternal alleles,
intermediate markers showed nonreduction, and distal markers reduction,
thus suggesting a meiosis II nondisjunction event in the father with two
crossovers. This is, to our knowledge, the first reported case of AS due
to meiosis II nondisjunction. We present detailed physical measurements
in this patient, adding to the clinical description of the milder
phenotype in AS due to pUPD
A case of partial trisomy of chromosome 8p associated with autism
We report on a case of a 6-year-old female with partial trisomy 8p(21-23) associated with autism, mild dysmorphic features, and moderate learning disability. Although mental retardation is a common finding in patients with mosaic trisomy 8 or partial trisomy of various regions of chromosome 8, only two cases associated with autism have been reported so far. Also, in our case clinical manifestations were mild compared to other patients with duplication of the same region of chromosome 8. Although there has been no strong evidence for linkage on chromosome 8 in any of the genome-wide linkage studies so far, the possibility that this segment includes genes involved in the etiology of autism should be further explored. © Springer Science+Business Media, Inc. 2006
Dysmorphology services: a snapshot of current practices and a vision for the future
Dysmorphology concerns the recognition and management of rare, multiple
anomaly syndromes. Genomic technologies and software for gestalt
recognition will re-shape dysmorphology services. In order to reflect on
a model of the service in the post-genomic era, we compared the utility
of dysmorphology consultations in two Mediterranean cities, Athens,
Greece and Afula, Israel (MDS), the Manchester Centre for Genomic
Medicine, a UK service with dysmorphology expertise (UKDS) and the
DYSCERNE, digital service (DDS). We show that it is more likely that
chromosome microarray analysis will be performed if suggested in the
UKDS rather than in the MDS; this, most probably reflects the difference
of access to genetic testing following funding limitations in the MDS.
We also show that in terms of achieved diagnosis, the first visit to a
dysmorphology clinic is more significant than a follow-up. We show that
a confirmed syndrome diagnosis significantly decreases the requests for
other, non-genetic, laboratory investigations. Conversely, it increases
the requests for reviews by other specialists and, most significantly
(t-test: 8.244), it increases further requests for screening for
possible associated complications. This is the first demonstration of
the demands, on a health service, following the diagnosis of a
dysmorphic condition
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter
Partial trisomy 17q22-qter is a rare but well-recognized clinical
entity, We present a case of partial trisomy for the long arm of
chromosome 17, which was detected in a female infant with severe
psychomotor and somatic retardation, Stargardt disease, short limbs, and
numerous minor anomalies. Differential chromosomal staining demonstrated
an excess of genetic material on the long arm of the late replicating X
chromosome, FISH and DNA polymorphism analysis showed that the extra
material belonged to the distal part of the long arm of chromosome 17
and that there was a partial monosomy of the distal part of the long arm
of the derivative X chromosome, The breakpoint regions of this
translocation were identified by molecular analysis using polymorphic
microsatellite markers on human chromosomes 17 and X The origin of the
abnormal X chromosome was found to be paternal, whereas the origin of
the duplicated part of chromosome 17 was maternal, The unbalanced
translocation between the paternal X and the maternal chromosome 17 is,
therefore, suggested to be due to a postzygotic error. (C) 1997
Wiley-Liss, Inc