Ring chromosome 7 syndrome

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).



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Narrow down the case reports



Total: 15 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(40.2%)		 15337469
 Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.
Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B.
Ann Genet. 2004;47(3):241-9.
Plagiocephaly Short nose
ELN
Child Chromosome Banding Chromosomes, Human, Pair 7 Face Females Fluorescent in Situ Hybridization Homo sapiens Infant Intellectual Disability Male Obesity Phenotype Psychomotor Agitation Ring Chromosomes Trisomy
2
(39.0%)		 18300171
 Ring chromosome 7 in an Indian woman.
Kaur A, Dhillon S, Garg PD, Singh JR.
J Intellect Dev Disabil. 2008;33(1):87-94.
Microcephaly
Chromosome Banding Chromosomes, Human, Pair 7 Dwarfism Homo sapiens India Intellectual Disability Lymphocyte Metaphase Microcephaly Mosaicism Phenotype Ring Chromosomes Skin Neoplasms
2
(39.0%)		 10982483
 Ring chromosome 7 and sacral agenesis.
Rodriguez L, Sanchis A, Villa A, Canovas A, Peris S, Estivalis M, Pons S, Martinez-Frias ML.
Am J Med Genet. 2000;94(1):52-8.
Microcephaly
Chromosome Aberrations Chromosomes, Human, Pair 7 Females Hemangioma Homo sapiens Infant Microcephaly Mosaicism Ring Chromosomes Sacrococcygeal Region
2
(39.0%)		 8362903
 Case of ring chromosome 7: the first report of neuropathological findings.
Tsukamoto H, Sakai N, Taniike M, Nakatsukasa M, Yoshiwara W, Sakamoto H, Fujimura H, Inui K, Okada S.
Am J Med Genet. 1993;46(6):632-5.
Microcephaly
Brain Chromosomes, Human, Pair 7 Cleft Palate Homo sapiens Infant, Newborn Intellectual Disability Male Male Genital Organs Pigmentation Disorders Ring Chromosomes
2
(39.0%)		 2189730
 Ring chromosome 7: report of the fifth case.
Caramia GM, Baroncini A, Osimani P, Forabosco A.
Eur J Pediatr. 1990;149(7):475-6.
Microcephaly
Chromosome Aberrations Chromosomes, Human, Pair 7 Growth Disorders Homo sapiens Male Microcephaly Pigmentation Disorders Ring Chromosomes Skin Neoplasms
6
(4.0%)		 30553467
 A rare case of hepatosplenic gammadelta T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8.
Jain H, Shetty D, Jain H, Sengar M, Khattry N, Subramanian PG.
Cancer Genet. 2018;228-229:17-20.
Hepatosplenomegaly
CD19 Antigens Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 8 Fatal Outcome Females Fluorescent in Situ Hybridization Homo sapiens Ring Chromosomes Splenic Neoplasms T-Cell Lymphoma Trisomy Young Adult gamma-delta T-Cell Receptor
6
(4.0%)		 24677512
 Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
Salas-Labadia C, Cervantes-Barragan DE, Cruz-Alcivar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Duran-McKinster C, Davila-Ortiz de Montellano DJ, Del Castillo-Ruiz V, Perez-Vera P.
Am J Med Genet A. 2014;164A(7):1765-9.
Nevus
Chromosome Banding Chromosomes, Human, Pair 7 Cytogenetic Analysis Fluorescent in Situ Hybridization Genetic Association Studies Homo sapiens Infant Male Mosaicism Phenotype Ring Chromosomes
6
(4.0%)		 16941150
 Hepatosplenic gammadelta T-cell lymphoma with ring chromosome 7, an isochromosome 7q equivalent clonal chromosomal aberration.
Tamaska J, Adam E, Kozma A, Gopcsa L, Andrikovics H, Tordai A, Halm G, Bereczki L, Bagdi E, Krenacs L.
Virchows Arch. 2006;449(4):479-83.
Hepatosplenomegaly
Antineoplastic Combined Chemotherapy Protocols Bone Marrow Chromosome Aberrations Chromosomes, Human, Pair 7 Clone Cells DNA, Neoplasm Fatal Outcome Females Fluorescent in Situ Hybridization Gene Rearrangement, gamma-Chain T-Cell Antigen Rec... Homo sapiens Immunophenotyping Middle Aged Polymerase Chain Reaction Spectral Karyotyping Splenic Neoplasms T-Cell Lymphoma
6
(4.0%)		 16737917
 Ring chromosome 7 with amplification of 7q sequences in a pediatric case of hepatosplenic T-cell lymphoma.
Shetty S, Mansoor A, Roland B.
Cancer Genet Cytogenet. 2006;167(2):161-3.
Splenomegaly
Bone Marrow Child Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 8 Hepatomegaly Homo sapiens Male Ring Chromosomes Splenic Neoplasms Splenomegaly T-Cell Lymphoma Trisomy
6
(4.0%)		 14565665
 Acute myelofibrosis in a patient with diffuse large cell non Hodgkin's lymphoma and renal cancer.
Mohren M, Essbach U, Franke A, Klink A, Maas C, Markmann I, Pelz AF, Jentsch-Ullrich K.
Leuk Lymphoma. 2003;44(9):1603-7.
Hepatosplenomegaly
Antineoplastic Combined Chemotherapy Protocols Bone Marrow Chromosome Aberrations Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 7 Clone Cells Combined Modality Therapy Diffuse Large B-Cell Lymphoma Fatal Outcome Females Genetic Predisposition to Disease Homo sapiens Kidney Neoplasm Middle Aged Neoplasms, Multiple Primary Nephrectomy Pancytopenia Primary Myelofibrosis Renal Cell Carcinoma Ring Chromosomes
        

Phenotype(s) retrieved from Orphanet

    Total: 58

HPO ID Term Frequency
HP:0000047 Hypospadias Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000271 Abnormality of the face Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000294 Low anterior hairline Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000385 Small earlobe Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000601 Hypotelorism Very frequent (99-80%)
HP:0000932 Abnormality of the posterior cranial fossa Very frequent (99-80%)
HP:0001270 Motor delay Very frequent (99-80%)
HP:0001488 Bilateral ptosis Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004425 Flat forehead Very frequent (99-80%)
HP:0007687 Unilateral ptosis Very frequent (99-80%)
HP:0008846 Severe intrauterine growth retardation Very frequent (99-80%)
HP:0009088 Speech articulation difficulties Very frequent (99-80%)
HP:0009899 Prominent crus of helix Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0001000 Abnormality of skin pigmentation Frequent (79-30%)
HP:0001238 Slender finger Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0009933 Narrow naris Frequent (79-30%)
HP:0030148 Heart murmur Frequent (79-30%)
HP:0000034 Hydrocele testis Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000329 Facial hemangioma Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000565 Esotropia Occasional (29-5%)
HP:0000954 Single transverse palmar crease Occasional (29-5%)
HP:0000957 Cafe-au-lait spot Occasional (29-5%)
HP:0001317 Abnormal cerebellum morphology Occasional (29-5%)
HP:0002857 Genu valgum Occasional (29-5%)
HP:0002861 Melanoma Occasional (29-5%)
HP:0004619 Lumbar kyphoscoliosis Occasional (29-5%)
HP:0007481 Hyperpigmented nevi Occasional (29-5%)
HP:0200055 Small hand Occasional (29-5%)
HP:0000193 Bifid uvula Very rare (4-1%)
HP:0001357 Plagiocephaly Very rare (4-1%)
HP:0001360 Holoprosencephaly Very rare (4-1%)
HP:0001696 Situs inversus totalis Very rare (4-1%)
HP:0004209 Clinodactyly of the 5th finger Very rare (4-1%)
HP:0009099 Median cleft palate Very rare (4-1%)
HP:0009237 Short 5th finger Very rare (4-1%)
HP:0009779 3-4 toe syndactyly Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000252 Microcephaly 3
HP:0000957 Cafe-au-lait spot 2
HP:0004322 Short stature 2
HP:0001052 Nevus flammeus 1
HP:0001880 Eosinophilia 1
HP:0002090 Pneumonia 1
HP:0002861 Melanoma 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID