Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
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چکیده
منابع مشابه
Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?
Several papers have recently shown that 6–7% of retarded patients with unclassified malformation syndromes and normal routine cytogenetic analysis have cryptic rearrangements involving subtelomeric regions. About half of these patients have familial unbalanced translocations, the other half have de novo deletions, and very few cases have duplications. The existence of subtelomeric imbalances wi...
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A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especially reinforced those features thought to be characteristic of 6p trisomy syndrome.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.8.e94