Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.
Identifieur interne : 004297 ( Pmc/Checkpoint ); précédent : 004296; suivant : 004298Clinical, 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.
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PubMed: 7906921
PubMed Central: 1918126
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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>
<sec sec-type="scanned-figures"><title>Images</title>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-title>American Journal of Human Genetics</journal-title>
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<title-group><article-title>Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.</article-title>
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<contrib-group><contrib contrib-type="author"><name><surname>Nesslinger</surname>
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<contrib contrib-type="author"><name><surname>McDermid</surname>
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<aff>Department of Genetics, University of Alberta, Edmonton, Canada.</aff>
<pub-date pub-type="ppub"><month>3</month>
<year>1994</year>
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<volume>54</volume>
<issue>3</issue>
<fpage>464</fpage>
<lpage>472</lpage>
<abstract><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>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><label>Figure 1</label>
<graphic xlink:href="ajhg00048-0074-a" xlink:role="466"></graphic>
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</fig>
<fig id="F3"><label>Figure 3</label>
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<name sortKey="Gorski, J L" sort="Gorski, J L" uniqKey="Gorski J" first="J. L." last="Gorski">J. L. Gorski</name>
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<name sortKey="Mcdermid, H E" sort="Mcdermid, H E" uniqKey="Mcdermid H" first="H. E." last="Mcdermid">H. E. Mcdermid</name>
<name sortKey="Nesslinger, N J" sort="Nesslinger, N J" uniqKey="Nesslinger N" first="N. J." last="Nesslinger">N. J. Nesslinger</name>
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