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The trisomy 4p syndrome: Case report and review

Identifieur interne : 00DF35 ( Main/Exploration ); précédent : 00DF34; suivant : 00DF36

The trisomy 4p syndrome: Case report and review

Auteurs : Claudette Hajaj Gonzalez [États-Unis, Brésil] ; Annemarie Sommer [États-Unis] ; Lorraine F. Meisner [États-Unis] ; B. Rafael Elejalde [États-Unis] ; John M. Opitz [États-Unis] ; U. Francke

Source :

RBID : ISTEX:848C6373DDDE18E1CA89962D50737E1300CDDC92

English descriptors

Abstract

We report a further case of trisomy 4p: a 5‐year‐old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11♂, 16♀, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently “total” trisomy of the short arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the “pure” trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.

Url:
DOI: 10.1002/ajmg.1320010202


Affiliations:


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Le document en format XML

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<div type="abstract" xml:lang="en">We report a further case of trisomy 4p: a 5‐year‐old mentally retarded boy with characteristic facial features, eye abnormalities, flexion contractures, several bone anomalies, and hyperactivity. In a review of 27 cases (11♂, 16♀, 22 families) the cytogenetic and clinical data were tabulated and analyzed. Diagnosis is established by karyotype: there is always partial or apparently “total” trisomy of the short arm of chromosome 4. In 19 families a parent carried either a balanced translocation (16 times) or a pericentric inversion (3 times); 3 patients had de novo duplication of 4p. In several cases, additional deletions or trisomies were present. From the analysis of all cases, but particularly of the “pure” trisomies, the phenotypic spectrum of this condition was observed and found to be a specific multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its main features are a characteristic facial appearance, postnatal growth retardation, severe psychomotor retardation with or without seizures, microcephaly, and various major and minor anomalies.</div>
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