Journal ArticleDOI
Ring chromosome 6: case report and review of literature.
TLDR
A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies.Abstract:
A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies. Cytogenetic studies indicate the instability of the ring chromosome. The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia. Linkage studies, including HLA, are consistent with reported maps of chromosome 6.read more
Citations
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Journal ArticleDOI
Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.
Rita Singh,R. J McKinlay Gardner,Kathryn M. Crossland,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Samuel F. Berkovic,Samuel F. Berkovic +7 more
TL;DR: This work analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes and hoped that these regions could then be offered as targets in the search for epilepsy genes.
Journal ArticleDOI
Partial deletion of chromosome 6p: delineation of the syndrome.
TL;DR: The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.
Journal ArticleDOI
Distal deletion of the short arm of chromosome 6.
TL;DR: This apparent association of congenital eye defects with distal del(6p) was supported by comparison with patients having other deletions of chromosome 6, particularly those with ring chromosome 6.
Journal ArticleDOI
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.
G. Pierquin,N. Van Regemorter,Hayez-Delatte,C. Fourneau,J. Bormans,M. Foerster,E. Damis,N. Cremer-Perlmutter,C. M. Lapiere,E. Vamos +9 more
TL;DR: The present findings suggest that, as a result of the chromosome rearrangements, both patients have a mutation on a gene involved in collagen production, located either on chromosome 1q or, more probably, on 6p.
Journal ArticleDOI
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6
Levin H,Levin H,Ritch R,Ritch R,Barathur R,Dunn Mw,Dunn Mw,Teekhasaenee C,Teekhasaenee C,Margolis S,Margolis S +10 more
TL;DR: A premature infant with unilateral aniridia and congenital ectropion uveae, contralateral Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring chromosome 6, consistent with multiple manifestations of a neural crest-derived maldevelopment of the anterior segment and central nervous system.
References
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Journal ArticleDOI
Assignment of the major histocompatibility complex to a region of the short arm of human chromosome 6
TL;DR: Quantitative correlation between the density of HLA antigens on the hybrid cell surface and the number of copies of the respective HLA gene-bearing chromosome suggests a gene dose effect for cell surface molecules, as it exists for intracellular gene products.
Journal ArticleDOI
Developmental Abnormalities Associated with a Ring Chromosome 6
TL;DR: Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics, so this is the first report of a ring autosome in the C group to be identified.
Journal ArticleDOI
Localization of HLA on the Short Arm of Chromosome 6
Martijn H. Breuning,Ella M. van den Berg-Loonen,Luigi F. Bernini,J. B. Bijlsma,Erna van Loghem,P. Meera Khan,Lourens E. Nijenhuis +6 more
TL;DR: A detailed marker gene study in a large Dutch kindred segregating for a reciprocal translocation between the chromosomes 6 and 20, t(6;20) (p21;p13), revealed a close linkage between the HLA genes and the breakpoint on the short arm of 6.
Journal ArticleDOI
Mental retardation and congenital malformations associated with a ring chromosome 6.
TL;DR: A boy, in whom a ring chromosome 6 was found, presented with mental retardation and odd facies, and the ring chromosome was identified by the ASG banding technique.
Journal ArticleDOI
Ring chromosome 6 in a malformed boy.
TL;DR: Clinical, cytogenetical and post‐mortem findings are discussed in a mentally retarded and malformed boy who died at 6 months of age a ring chromosome 6 was identified by G banding.