Ring chromosome 8 syndrome

Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).



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Narrow down the case reports



Total: 11 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(66.3%)		 11391511
 [Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype].
Bibas Bonet H, Fontenla M, Fauze R, G de Pinat I.
Rev Neurol. 2001;32(8):746-50.
Narrow palate Long philtrum Micrognathia
Adult Child Child Behavior Chromosomes, Human, Pair 8 Congenital Hand Deformities Face Females Homo sapiens Intellectual Disability Male Microcephaly Phenotype Ring Chromosomes
2
(40.2%)		 1552550
 Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.
Verma RS, Conte RA, Pitter JH, Luke S.
J Med Genet. 1992;29(1):66-7.
Prominent nose Congenital microcephaly
Chromosome Aberrations Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 8 Face Females Homo sapiens Intellectual Disability Microcephaly Ring Chromosomes
3
(39.0%)		 15337475
 Inherited ring chromosome 8 without loss of subtelomeric sequences.
Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A.
Ann Genet. 2004;47(3):289-96.
Microcephaly
Adult Amblyopia Child Chromosomes, Human, Pair 8 Cultured Cells Dwarfism Females Fetal Growth Retardation Fluorescent in Situ Hybridization Homo sapiens Learning Disabilities Lymphocyte Male Microcephaly Pregnancy Ring Chromosomes Ultrasonography, Prenatal
3
(39.0%)		 1746890
 Ring chromosome 8 associated with microcephaly.
Mingarelli R, Valorani G, Zelante L, Dallapiccola B.
Ann Genet. 1991;34(2):90-2.
Microcephaly
Chromosomes, Human, Pair 8 Females Homo sapiens Infant Intellectual Disability Microcephaly Phenotype Ring Chromosomes
5
(23.3%)		 25365853
 Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
Eyupoglu FC, Sunnetci D, Cine N, Savli H, Okten A, Acikgoz EG, Sonmez FM.
Genet Couns. 2014;25(3):305-13.
Hypospadias Thoracolumbar scoliosis
ENDOU
Child, Preschool Chromosome Banding Chromosomes, Human, Pair 8 Craniofacial Abnormalities Cytogenetic Analysis Developmental Disabilities Disorders of Sex Development Follow-Up Studies Homo sapiens Infant Infant, Newborn Male Mosaicism Ring Chromosomes Trisomy
6
(4.0%)		 29393095
 MYC Amplification in the Form of Ring Chromosomes 8 in Acute Myeloid Leukemia with t(11;16)(q13;p11.2).
Yamamoto K, Kawamoto S, Kurata K, Kitao A, Mizutani Y, Ichikawa H, Yakushijin K, Kajimoto K, Hayashi Y, Matsuoka H, Minami H.
Cytogenet Genome Res. 2017;153(3):131-137.
Thrombocytopenia
MYC
Chromosome Banding Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 8 Females Fluorescent in Situ Hybridization Gene Amplification Homo sapiens Leukemia, Myelocytic, Acute Middle Aged Ring Chromosomes
6
(4.0%)		 23792211
 Persisting ring chromosomes detected by mFISH in lymphocytes of a cancer patient-a case report.
Schmitz S, Pinkawa M, Eble MJ, Kriehuber R.
Mutat Res. 2013;756(1-2):158-64.
Prostate cancer
Aged, 80 and over Antineoplastic Combined Chemotherapy Protocols Blood Cells Chromosome Aberrations Chromosome Painting Chromosomes, Human, Pair 8 Fluorescent in Situ Hybridization Gamma Rays Homo sapiens Lymphocyte Male Metaphase Prostatic Neoplasms Ring Chromosomes
6
(4.0%)		 21139500
 Combined aniridia ring implantation and cataract surgery in an Axenfeld-Rieger syndrome: a UBM report.
Guerriero S, L'Abbate M, La Tegola MG, Alessio G, Sborgia G.
Eye Contact Lens. 2011;37(1):45-7.
Cataract
Adult Aniridia Cataract Cataract Extraction Eye Abnormalities Eye Diseases, Hereditary Homo sapiens Male Microscopy, Acoustic Postoperative Period Prostheses and Implants Visual Acuity
6
(4.0%)		 17574965
 TRIB1 overexpression in acute myeloid leukemia.
Rothlisberger B, Heizmann M, Bargetzi MJ, Huber AR.
Cancer Genet Cytogenet. 2007;176(1):58-60.
Leukemia
MYC
Chromosomes, Human, Pair 8 Females Fluorescent in Situ Hybridization Gene Amplification Homo sapiens Intracellular Signaling Peptides and Proteins Leukemia, Myelocytic, Acute Middle Aged Protein-Serine-Threonine Kinases Ring Chromosomes
6
(4.0%)		 15378554
 Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case report.
Demori E, Devescovi R, Benussi DG, Dolce S, Carrozzi M, Villa N, Miertus J, Amoroso A, Pecile V.
Am J Med Genet A. 2004;130A(3):288-94.
Autistic behavior
Autistic Disorder Child, Preschool Chromosome Banding Chromosomes, Human, Pair 8 Developmental Disabilities Fluorescent in Situ Hybridization Homo sapiens Male Ring Chromosomes
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000069 Abnormality of the ureter Very frequent (99-80%)
HP:0000126 Hydronephrosis Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000340 Sloping forehead Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004097 Deviation of finger Very frequent (99-80%)
HP:0100830 Round ear Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0000252 Microcephaly 1
HP:0001909 Leukemia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID