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Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
TLDR
An additional cohort of 40 patients who had vascular Ehlers–Danlos syndrome without the characteristic type III collagen abnormalities or the craniofacial features of the Loeys–Dietz syndrome were screened and a mutation in TGFBR1 or TGF BR2 was found.
Genomic insight into the amino acid relations of the pea aphid, Acyrthosiphon pisum, with its symbiotic bacterium Buchnera aphidicola
TLDR
Overall the genome data suggest that the biosynthesis of certain essential amino acids is shared between the pea aphid and Buchnera APS, providing the opportunity for precise aphid control over BuchnerA metabolism.
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.
TLDR
A child is presented with a clinical phenotype consistent with deletion 3p syndrome and a subtle interstitial deletion in the distal portion of the short arm of chromosome 3, del(3)(p25.3p26)2, which represents the smallest reported deletion associated with deletion 2p syndrome.
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
TLDR
The data provide evidence that the 10q22-q23 genomic region harbors one or more genes important for cognitive and behavioral development and that recurrent deletions affecting this interval define a novel genomic disorder.
3q29 interstitial microduplication: A new syndrome in a three‐generation family
TLDR
A novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29 is identified, which is the genomic counterpart of the recently described microdeletion of 3q29.
Genomic analysis of partial 21q monosomies with variable phenotypes
TLDR
It is suggested that deletion of regions 1 and 2 is compatible with life and have a variable phenotype perhaps relating more to other genetic and environmental variables than to genes in the interval.
Complex chromosome rearrangements:Report of a new case and literature review
TLDR
A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described, the first such instance to be recorded.
Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function
TLDR
It is proposed that hemizygous deletions of HMX2 and HMX3 are responsible for the inner ear malformations observed from CT images, vestibular dysfunction, and congenital sensorineural hearing loss found in Patients 3 and 4.
Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
TLDR
Investigation of the frequency of del(22)(q13.3) in the idiopathic mentally retarded population is warranted and may be aided by the ability to use a commercially available probe (D22S39), which is already currently in use in a large number of cytogenetic laboratories.
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