Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
Identifieur interne : 00C864 ( Main/Exploration ); précédent : 00C863; suivant : 00C865Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
Auteurs : N. J. Nesslinger ; J. L. Gorski ; T. W. Kurczynski ; S. K. Shapira ; J. Siegel-Bartelt ; J. P. Dumanski ; R. F. Cullen ; B. N. French ; H. E. McdermidSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 1994.
Abstract
We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM.
Url:
PubMed: 7906921
PubMed Central: 1918126
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over approximately 13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA, a distance of > 25.5 cM.</p>
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