The trisomy 4p syndrome: Case report and review
Identifieur interne : 004181 ( Istex/Curation ); précédent : 004180; suivant : 004182The 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. FranckeSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1977.
English descriptors
- KwdEn :
- Abnormal, Abnormal eegs, Abnormal genitalia, Abnormal helices, Abnormal length, Abnormality, Acta paediatr, Anomaly, Antimongoloid slant, Arched palate, Balanced translocation, Balanced translocation carriers, Birth weight, Bridged palmar crease, Case report, Centric fission, Chest anomalies, Chromosome, Clinical findings, Clinical manifestations, Congenital, Congenital heart defect, Congenital heart disease, Contracture, Corpus callosum, Cutaneous appendices, Cytogenetic, Cytogenetic findings, Dallapiccola, Dermatoglyphics, Digital impressions, Distal phalanges, Female patients, Finger prints, Fingers hands, First cousin, First cousins, Fissure, Flexion, Flexion contractures, Forabosco, Genet, Gonzalez, Growth retardation, Hand dermatoglyphics, Head circumference, Hypoplasia, Hypoplastic, Hypoplastic lobules, Hypoplastic scrotum, Iliac wings, Internipple distance, Intrarenal pelvis bilaterally, Inversion, Karyotype, Kurzen arms eines chromosoms, Lower limbs, Lower lips, Lower lobe atelectasis, Male patients, Medical genetics, Minor anomalies, Months years, More whorls, Nasal septum, Neonatal period, Normal karyotype, Ocular abnormalities, Oldest patients, Palate, Palpebral, Palpebral fissures, Paris conference, Partial trisomy, Partielle trisomie, Pericentric inversion, Phalange, Phenotypic spectrum, Prominent antihelices, Prominent glabella, Radial loops, Respiratory distress syndrome, Respiratory problems, Retardation, Right hand, Sacral dimple, Second case, Short arms, Short neck, Skeletal anomalies, Slight hirsutism, Slight hypoplasia, Small capital femoral epiphyses, Small penis, Small sella turcica, Supraorbital ridges, Syndrome, Translocation, Translocation cases, Trisomie, Trisomy, Ulnar, Ulnar loops, Uncomplicated pregnancy, Unilateral hydronephrosis, Whorl, Years years.
- Teeft :
- Abnormal, Abnormal eegs, Abnormal genitalia, Abnormal helices, Abnormal length, Abnormality, Acta paediatr, Anomaly, Antimongoloid slant, Arched palate, Balanced translocation, Balanced translocation carriers, Birth weight, Bridged palmar crease, Case report, Centric fission, Chest anomalies, Chromosome, Clinical findings, Clinical manifestations, Congenital, Congenital heart defect, Congenital heart disease, Contracture, Corpus callosum, Cutaneous appendices, Cytogenetic, Cytogenetic findings, Dallapiccola, Dermatoglyphics, Digital impressions, Distal phalanges, Female patients, Finger prints, Fingers hands, First cousin, First cousins, Fissure, Flexion, Flexion contractures, Forabosco, Genet, Gonzalez, Growth retardation, Hand dermatoglyphics, Head circumference, Hypoplasia, Hypoplastic, Hypoplastic lobules, Hypoplastic scrotum, Iliac wings, Internipple distance, Intrarenal pelvis bilaterally, Inversion, Karyotype, Kurzen arms eines chromosoms, Lower limbs, Lower lips, Lower lobe atelectasis, Male patients, Medical genetics, Minor anomalies, Months years, More whorls, Nasal septum, Neonatal period, Normal karyotype, Ocular abnormalities, Oldest patients, Palate, Palpebral, Palpebral fissures, Paris conference, Partial trisomy, Partielle trisomie, Pericentric inversion, Phalange, Phenotypic spectrum, Prominent antihelices, Prominent glabella, Radial loops, Respiratory distress syndrome, Respiratory problems, Retardation, Right hand, Sacral dimple, Second case, Short arms, Short neck, Skeletal anomalies, Slight hirsutism, Slight hypoplasia, Small capital femoral epiphyses, Small penis, Small sella turcica, Supraorbital ridges, Syndrome, Translocation, Translocation cases, Trisomie, Trisomy, Ulnar, Ulnar loops, Uncomplicated pregnancy, Unilateral hydronephrosis, Whorl, Years years.
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
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<affiliation wicri:level="1"><mods:affiliation>Current Address: Instituto da Criança, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil</mods:affiliation>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormal</term>
<term>Abnormal eegs</term>
<term>Abnormal genitalia</term>
<term>Abnormal helices</term>
<term>Abnormal length</term>
<term>Abnormality</term>
<term>Acta paediatr</term>
<term>Anomaly</term>
<term>Antimongoloid slant</term>
<term>Arched palate</term>
<term>Balanced translocation</term>
<term>Balanced translocation carriers</term>
<term>Birth weight</term>
<term>Bridged palmar crease</term>
<term>Case report</term>
<term>Centric fission</term>
<term>Chest anomalies</term>
<term>Chromosome</term>
<term>Clinical findings</term>
<term>Clinical manifestations</term>
<term>Congenital</term>
<term>Congenital heart defect</term>
<term>Congenital heart disease</term>
<term>Contracture</term>
<term>Corpus callosum</term>
<term>Cutaneous appendices</term>
<term>Cytogenetic</term>
<term>Cytogenetic findings</term>
<term>Dallapiccola</term>
<term>Dermatoglyphics</term>
<term>Digital impressions</term>
<term>Distal phalanges</term>
<term>Female patients</term>
<term>Finger prints</term>
<term>Fingers hands</term>
<term>First cousin</term>
<term>First cousins</term>
<term>Fissure</term>
<term>Flexion</term>
<term>Flexion contractures</term>
<term>Forabosco</term>
<term>Genet</term>
<term>Gonzalez</term>
<term>Growth retardation</term>
<term>Hand dermatoglyphics</term>
<term>Head circumference</term>
<term>Hypoplasia</term>
<term>Hypoplastic</term>
<term>Hypoplastic lobules</term>
<term>Hypoplastic scrotum</term>
<term>Iliac wings</term>
<term>Internipple distance</term>
<term>Intrarenal pelvis bilaterally</term>
<term>Inversion</term>
<term>Karyotype</term>
<term>Kurzen arms eines chromosoms</term>
<term>Lower limbs</term>
<term>Lower lips</term>
<term>Lower lobe atelectasis</term>
<term>Male patients</term>
<term>Medical genetics</term>
<term>Minor anomalies</term>
<term>Months years</term>
<term>More whorls</term>
<term>Nasal septum</term>
<term>Neonatal period</term>
<term>Normal karyotype</term>
<term>Ocular abnormalities</term>
<term>Oldest patients</term>
<term>Palate</term>
<term>Palpebral</term>
<term>Palpebral fissures</term>
<term>Paris conference</term>
<term>Partial trisomy</term>
<term>Partielle trisomie</term>
<term>Pericentric inversion</term>
<term>Phalange</term>
<term>Phenotypic spectrum</term>
<term>Prominent antihelices</term>
<term>Prominent glabella</term>
<term>Radial loops</term>
<term>Respiratory distress syndrome</term>
<term>Respiratory problems</term>
<term>Retardation</term>
<term>Right hand</term>
<term>Sacral dimple</term>
<term>Second case</term>
<term>Short arms</term>
<term>Short neck</term>
<term>Skeletal anomalies</term>
<term>Slight hirsutism</term>
<term>Slight hypoplasia</term>
<term>Small capital femoral epiphyses</term>
<term>Small penis</term>
<term>Small sella turcica</term>
<term>Supraorbital ridges</term>
<term>Syndrome</term>
<term>Translocation</term>
<term>Translocation cases</term>
<term>Trisomie</term>
<term>Trisomy</term>
<term>Ulnar</term>
<term>Ulnar loops</term>
<term>Uncomplicated pregnancy</term>
<term>Unilateral hydronephrosis</term>
<term>Whorl</term>
<term>Years years</term>
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<term>Abnormal eegs</term>
<term>Abnormal genitalia</term>
<term>Abnormal helices</term>
<term>Abnormal length</term>
<term>Abnormality</term>
<term>Acta paediatr</term>
<term>Anomaly</term>
<term>Antimongoloid slant</term>
<term>Arched palate</term>
<term>Balanced translocation</term>
<term>Balanced translocation carriers</term>
<term>Birth weight</term>
<term>Bridged palmar crease</term>
<term>Case report</term>
<term>Centric fission</term>
<term>Chest anomalies</term>
<term>Chromosome</term>
<term>Clinical findings</term>
<term>Clinical manifestations</term>
<term>Congenital</term>
<term>Congenital heart defect</term>
<term>Congenital heart disease</term>
<term>Contracture</term>
<term>Corpus callosum</term>
<term>Cutaneous appendices</term>
<term>Cytogenetic</term>
<term>Cytogenetic findings</term>
<term>Dallapiccola</term>
<term>Dermatoglyphics</term>
<term>Digital impressions</term>
<term>Distal phalanges</term>
<term>Female patients</term>
<term>Finger prints</term>
<term>Fingers hands</term>
<term>First cousin</term>
<term>First cousins</term>
<term>Fissure</term>
<term>Flexion</term>
<term>Flexion contractures</term>
<term>Forabosco</term>
<term>Genet</term>
<term>Gonzalez</term>
<term>Growth retardation</term>
<term>Hand dermatoglyphics</term>
<term>Head circumference</term>
<term>Hypoplasia</term>
<term>Hypoplastic</term>
<term>Hypoplastic lobules</term>
<term>Hypoplastic scrotum</term>
<term>Iliac wings</term>
<term>Internipple distance</term>
<term>Intrarenal pelvis bilaterally</term>
<term>Inversion</term>
<term>Karyotype</term>
<term>Kurzen arms eines chromosoms</term>
<term>Lower limbs</term>
<term>Lower lips</term>
<term>Lower lobe atelectasis</term>
<term>Male patients</term>
<term>Medical genetics</term>
<term>Minor anomalies</term>
<term>Months years</term>
<term>More whorls</term>
<term>Nasal septum</term>
<term>Neonatal period</term>
<term>Normal karyotype</term>
<term>Ocular abnormalities</term>
<term>Oldest patients</term>
<term>Palate</term>
<term>Palpebral</term>
<term>Palpebral fissures</term>
<term>Paris conference</term>
<term>Partial trisomy</term>
<term>Partielle trisomie</term>
<term>Pericentric inversion</term>
<term>Phalange</term>
<term>Phenotypic spectrum</term>
<term>Prominent antihelices</term>
<term>Prominent glabella</term>
<term>Radial loops</term>
<term>Respiratory distress syndrome</term>
<term>Respiratory problems</term>
<term>Retardation</term>
<term>Right hand</term>
<term>Sacral dimple</term>
<term>Second case</term>
<term>Short arms</term>
<term>Short neck</term>
<term>Skeletal anomalies</term>
<term>Slight hirsutism</term>
<term>Slight hypoplasia</term>
<term>Small capital femoral epiphyses</term>
<term>Small penis</term>
<term>Small sella turcica</term>
<term>Supraorbital ridges</term>
<term>Syndrome</term>
<term>Translocation</term>
<term>Translocation cases</term>
<term>Trisomie</term>
<term>Trisomy</term>
<term>Ulnar</term>
<term>Ulnar loops</term>
<term>Uncomplicated pregnancy</term>
<term>Unilateral hydronephrosis</term>
<term>Whorl</term>
<term>Years years</term>
</keywords>
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<front><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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