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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N." last="French">B. N. French</name></author><author><name sortKey="Mcdermid, H E" sort="Mcdermid, H E" uniqKey="Mcdermid H" first="H. E." last="Mcdermid">H. E. Mcdermid</name></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="1994">1994</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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><fig id="F1"><label>Figure 1</label><graphic xlink:href="ajhg00048-0074-a" xlink:role="466"></graphic></fig><fig id="F2"><label>Figure 2</label><graphic xlink:href="ajhg00048-0074-b" xlink:role="466"></graphic></fig><fig id="F3"><label>Figure 3</label><graphic xlink:href="ajhg00048-0076-a" xlink:role="468"></graphic></fig></sec></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Cullen, R F" sort="Cullen, R F" uniqKey="Cullen R" first="R. F." last="Cullen">R. F. 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