Ring chromosome 4 syndrome

Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.



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Narrow down the case reports



Total: 23 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(59.0%)		 2677233
 [The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital].
Chuang SM, Wang TR, Jean HH, Lee FY.
Taiwan Yi Xue Hui Za Zhi. 1989;88(6):635-8, 628-9.
Round face Micrognathia
Chromosome Aberrations Cri-du-Chat Syndrome Homo sapiens Infant, Newborn Male
2
(57.8%)		 7270516
 Ring 4 chromosome with terminal p and q deletions.
Finley WH, Finley SC, Chonmaitree T, Koors JE, Chandler WC.
Am J Dis Child. 1981;135(8):729-31.
Microcephaly Micrognathia
CDKN2A TAP1
Chromosome Aberrations Chromosome Deletion Chromosomes, Human, 4-5 Homo sapiens Infant Male Micrognathism
3
(48.8%)		 2015696
 Ring chromosome 4 in a child with mild dysmorphic signs.
Freyberger G, Wamsler C, Schmid M.
Clin Genet. 1991;39(2):151-5.
Microcephaly Clinodactyly
Age Determination by Skeleton Child Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 4 Fingers Growth Disorders Homo sapiens Male Microcephaly
4
(47.6%)		 21791306
 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4.
Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Wu PC, Chen WL, Chen LF, Pan CW, Wang W.
Taiwan J Obstet Gynecol. 2011;50(2):188-95.
Triangular face Clinodactyly
Adult Chromosomes, Human, Pair 4 Females Fluorescent in Situ Hybridization Genetic Markers Homo sapiens Mosaicism Pregnancy Ring Chromosomes Spectral Karyotyping
5
(46.3%)		 27610251
(5004004)
 Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.
Paththinige CS, Sirisena ND, Kariyawasam UG, Saman Kumara LP, Dissanayake VH.
Case Rep Genet. 2016;2016:4645716.
Microcephaly Bilateral talipes equinovarus
6
(40.2%)		 9332654
 Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome.
Anderson CE, Wallerstein R, Zamerowski ST, Witzleben C, Hoyer JR, Gibas L, Jackson LG.
Am J Med Genet. 1997;72(3):281-5.
Microcephaly Large beaked nose
Adult Chromosomes, Human, Pair 4 Craniofacial Dysostosis Fluorescent in Situ Hybridization Homo sapiens Intellectual Disability Kidney Male Mosaicism Ring Chromosomes Syndrome
7
(39.0%)		 28127864
 Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.
Burgemeister AL, Daumiller E, Dietze-Armana I, Klett C, Freiberg C, Stark W, Lingen M, Centonze I, Rettenberger G, Mehnert K, Zirn B.
Am J Med Genet A. 2017;173(3):727-732.
Microcephaly
GH1
Child Chromosome Aberrations Chromosomes, Human, Pair 4 Cytogenetic Analysis Facies Fluorescent in Situ Hybridization Genetic Association Studies Homo sapiens Male Phenotype Ring Chromosomes
7
(39.0%)		 16470698
 Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.
Balci S, Engiz O, Aktas D, Vargel I, Beksac MS, Mrasek K, Vermeesch J, Liehr T.
Am J Med Genet A. 2006;140(6):628-32.
Microcephaly
Chromosome Banding Chromosomes, Human, Pair 4 Cleft Palate Craniofacial Abnormalities Fluorescent in Situ Hybridization Growth Disorders Homo sapiens Infant Intellectual Disability Male Microcephaly Ring Chromosomes Syndrome
7
(39.0%)		 3671134
 [Ring chromosome 4 in twins].
Giuffre L, Cammarata M, Corsello G, Benigno V, Graziano L, Roccella F, Balsamo V.
Pediatr Med Chir. 1987;9(3):349-50.
Microcephaly
Chromosome Aberrations Chromosomes, Human, Pair 4 Diseases in Twins Homo sapiens Infant Male Ring Chromosomes
10
(35.4%)		 19921639
 Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy.
Soysal Y, Balci S, Hekimler K, Liehr T, Ewers E, Schoumans J, Bui TH, Icduygu FM, Kosyakova N, Imirzalioglu N.
Am J Med Genet A. 2009;149A(12):2782-7.
Vomiting Hip dislocation Clinodactyly of the 5th finger
Adult Chromosome Banding Chromosomes, Human, Pair 4 Epilepsy Females Hip Dislocation Homo sapiens Infant Male Mosaicism Pregnancy Ring Chromosomes
        

Phenotype(s) retrieved from Orphanet

    Total: 4

HPO ID Term Frequency
HP:0001171 Split hand Very frequent (99-80%)
HP:0006501 Aplasia/Hypoplasia of the radius Frequent (79-30%)
HP:0002817 Abnormality of the upper limb Occasional (29-5%)
HP:0002997 Abnormality of the ulna Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 16

HPO ID Term # of case reports
HP:0000252 Microcephaly 4
HP:0000047 Hypospadias 1
HP:0000347 Micrognathia 1
HP:0000612 Iris coloboma 1
HP:0000752 Hyperactivity 1
HP:0000798 Oligospermia 1
HP:0001643 Patent ductus arteriosus 1
HP:0001746 Asplenia 1
HP:0001776 Bilateral talipes equinovarus 1
HP:0002664 Neoplasm 1
HP:0002827 Hip dislocation 1
HP:0003510 Severe short stature 1
HP:0004322 Short stature 1
HP:0005211 Midgut malrotation 1
HP:0010442 Polydactyly 1
HP:0030432 Chondroblastoma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID