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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pubmed:519902Le document en format XML
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<author><name sortKey="Funderburk, S J" sort="Funderburk, S J" uniqKey="Funderburk S" first="S J" last="Funderburk">S J Funderburk</name>
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<author><name sortKey="Sparkes, R S" sort="Sparkes, R S" uniqKey="Sparkes R" first="R S" last="Sparkes">R S Sparkes</name>
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<author><name sortKey="Klisak, I" sort="Klisak, I" uniqKey="Klisak I" first="I" last="Klisak">I. Klisak</name>
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<author><name sortKey="Funderburk, S J" sort="Funderburk, S J" uniqKey="Funderburk S" first="S J" last="Funderburk">S J Funderburk</name>
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<author><name sortKey="Sparkes, R S" sort="Sparkes, R S" uniqKey="Sparkes R" first="R S" last="Sparkes">R S Sparkes</name>
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<author><name sortKey="Klisak, I" sort="Klisak, I" uniqKey="Klisak I" first="I" last="Klisak">I. Klisak</name>
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<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>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Intellectual Disability</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Chromosome Aberrations</term>
<term>Chromosomes, Human, 21-22 and Y</term>
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<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>
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<JournalIssue CitedMedium="Print"><Volume>16</Volume>
<Issue>5</Issue>
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<Title>Clinical genetics</Title>
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<ArticleTitle>Phenotypic variation in two patients with a ring chromosome 22.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
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