Journal ArticleDOI
Ring chromosome 6: Case report and review
TLDR
The most characteristic findings in subjects with a ring chromosome 6 are mental retardation and eye and ear abnormalities, none of which were present in the authors' patient.Abstract:
A ring chromosome 6 was identified in an apparently healthy girl with short stature and microcephaly. Of 100 peripheral lymphocyte metaphases analyzed, chromosome 6 was replaced in 73% by a monocentric ring chromosome, in 10% by a dicentric, in 1% by a tricentric, and 3% by two rings. Thirteen other cells were 45,XX, −6, which may represent 46,XX,r(6)/45,XX, −6 mosaicism. The breakpoints were located on bands p24 or p25 and q26 or q27. Eight other patients with a ring chromosome 6 have been reported. The most characteristic findings in subjects with a ring chromosome 6 are mental retardation and eye and ear abonormalities, none of which were present in our patient.read more
Citations
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Journal ArticleDOI
Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting
Nikolai Rubtsov,Gabriele Senger,Helga Kuzcera,Annett Neumann,Christina Kelbova,Kerstin Junker,Volkmar Beensen,Uwe Claussen +7 more
TL;DR: In this paper, a 14-week-old boy with developmental retardation, facial anomalies, agenesis of corpus callosum, cleft palate, hypotonia, short neck and pterygium colli, and minor anomalies of hands and feet was used as a painting probe.
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
Deletion of terminal portion of 6q: report of a case with unusual malformations.
TL;DR: The necropsy findings of a 21-week-gestation male fetus with deletion of the terminal portion of long arm of chromosome 6 [46,XY,del(6)(q23----qter)] include intrauterine growth retardation, facial anomalies, nuchal cyst, scoliosis, bilateral diaphragmatic hernias, persistent common atrioventricular canal and absent olfactory bulbs.
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.
References
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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
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.
Journal ArticleDOI
Ring chromosome 6: case report and review of literature.
TL;DR: 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.