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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
TLDR
Hemizygosity at the elastin locus is identified using genetic analyses in four familial and five sporadic cases of Williams syndrome, indicating that deletions involving oneElastin allele cause WS and implicate elast in hemizygosa in the pathogenesis of the disease.
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region
TLDR
Five families with SVAS who have small deletions in the WS region studied shared a deletion of LIMK1, which encodes a protein strongly expressed in the brain, supporting the hypothesis that LimK1 hemizygosity contributes to impairment in visuospatial constructive cognition.
The evolutionary implications of chromosome banding pattern homologies in the bird order Galliformes.
The chromosome banding patterns of eight species of birds of the order Galliformes have been compared to determine their degree of chromosomal homology. The species studied were domestic chicken
Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome.
TLDR
This case further defines the critical region of 5p trisomy syndrome to proximal 5p and compares the clinical findings to other partial and complete 5p duplications.
Heat shock protein 27 gene: Chromosomal and molecular location and relationship to Williams syndrome
TLDR
The results indicated that HSP27 was deleted in three patients and that H SP27 is telomeric to cos11, cos64, cos82, and B350L10 and B363M4 was demonstrated to overlap the telomersic end of B161A02.
Chromosomal evolution in serpentes; a comparison of G and C chromosome banding patterns of some colubrid and boid genera
TLDR
G-banding has facilitated the demonstration of a simple pericentric inversion distinguishing the Z and W chromosomes in Acrantophis dumereli, which represents the first report of differentiated sex chromosomes in a boid snake.
Karyological relationships in turtles (Reptilia: Chelonia).
  • A. Stock
  • Biology
    Canadian journal of genetics and cytology…
  • 1 December 1972
TLDR
The mitotic chromosomes of 33 species of chelonians representing 22 genera and six families were investigated and frequencies of chiasmata formation similar to those reported earlier.
Chromosomal homologies and phylogenetic relationships of the vespertilionid bat genera Euderma, Idionycteris, and Plecotus.
  • A. Stock
  • Biology
    Cytogenetics and cell genetics
  • 1983
TLDR
The degree of non-matching of biarmed chromosomes indicates that the ancestor that gave rise to the Plecotus line and the Eudermaj Idionycteris line possessed a karyotype with at least 15 pairs of telocentric or acrocentric chromosomes and a diploid number of at least 42.
Bone marrow transplantation for myelodysplastic and myeloproliferative syndromes.
TLDR
Twenty patients with de novo or drug-induced myelodysplastic syndromes or myeloproliferative disorders were treated with myeloablative immunosuppressive therapy followed by bone marrow transplantation (BMT).
Supravalvular aortic stenosis cosegregates with a familial 6; 7 translocation which disrupts the elastin gene.
TLDR
This work reports on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVas is the result of a mutation of elastin at 7q 11.23 region.
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