Phenotypic variation in two patients with a ring chromosome 22.
Identifieur interne : 006E93 ( PubMed/Corpus ); précédent : 006E92; suivant : 006E94Phenotypic variation in two patients with a ring chromosome 22.
Auteurs : S J Funderburk ; R S Sparkes ; I. KlisakSource :
- Clinical genetics [ 0009-9163 ] ; 1979.
English descriptors
- KwdEn :
- MESH :
Abstract
Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.
PubMed: 519902
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Klisak</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1979">1979</date><idno type="RBID">pubmed:519902</idno><idno type="pmid">519902</idno><idno type="wicri:Area/PubMed/Corpus">006E93</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">006E93</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic variation in two patients with a ring chromosome 22.</title><author><name sortKey="Funderburk, S J" sort="Funderburk, S J" uniqKey="Funderburk S" first="S J" last="Funderburk">S J Funderburk</name></author><author><name sortKey="Sparkes, R S" sort="Sparkes, R S" uniqKey="Sparkes R" first="R S" last="Sparkes">R S Sparkes</name></author><author><name sortKey="Klisak, I" sort="Klisak, I" uniqKey="Klisak I" first="I" last="Klisak">I. Klisak</name></author></analytic><series><title level="j">Clinical genetics</title><idno type="ISSN">0009-9163</idno><imprint><date when="1979" type="published">1979</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Adolescent</term><term>Chromosome Aberrations</term><term>Chromosomes, Human, 21-22 and Y</term><term>Female</term><term>Genetic Variation</term><term>Humans</term><term>Intellectual Disability (genetics)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Intellectual Disability</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Chromosome Aberrations</term><term>Chromosomes, Human, 21-22 and Y</term><term>Female</term><term>Genetic Variation</term><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">519902</PMID><DateCreated><Year>1980</Year><Month>03</Month><Day>24</Day></DateCreated><DateCompleted><Year>1980</Year><Month>03</Month><Day>24</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0009-9163</ISSN><JournalIssue CitedMedium="Print"><Volume>16</Volume><Issue>5</Issue><PubDate><Year>1979</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Clinical genetics</Title><ISOAbbreviation>Clin. 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