Ring chromosome 13 syndrome

Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.



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Narrow down the case reports



Total: 32 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 15300643
 [Chromosome analysis and phenotype location analysis on a patient with the karyotype of 45, XX, -13/46, XX, r(13)/46, XX, r(13;13)/47, XX, 2r(13)(p13q32.3)].
Liang DS, Wu LQ, Long ZG, Pan Q, Dai HP, Xia JH.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21(4):392-4.
Micrognathia
Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 13 Homo sapiens Infant Male Phenotype Review Literature as Topic Ring Chromosomes
2
(41.7%)		 7332149
 [Ring chromosome 13 and multiple malformations (author's transl)].
Antich J, Plaza J, Gean E.
An Esp Pediatr. 1981;15(5):469-73.
Narrow palate Microcephaly
Chromosome Aberrations Chromosome Banding Chromosome Deletion Chromosomes, Human, 13-15 Homo sapiens Infant Intellectual Disability Male Microcephaly
3
(39.0%)		 30500678
 Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13.
Nikitina TV, Menzorov AG, Kashevarova AA, Gridina MM, Khabarova AA, Yakovleva YS, Lopatkina ME, Pristyazhnyuk IE, Vasilyev SA, Serov OL, Lebedev IN.
Stem Cell Res. 2018;33:260-264.
Macrocephaly
Chromosomes, Human, Pair 13 Fibroblasts Homo sapiens Induced Pluripotent Stem Cells Male Mentally Disabled Persons Ring Chromosomes Skin
3
(39.0%)		 29518772
 Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Cakmakl S, Cankaya T, Gursoy S, Koc A, Krbyk O, Klcarslan OA, Ozer E, Ercal D, Bozkaya OG.
Cytogenet Genome Res. 2017;153(4):175-180.
Microcephaly
Astigmatism Chromosomes, Human, Pair 13 Congenital Heart Defects Fatal Outcome Females Fetal Growth Retardation Hearing Loss, Bilateral Homo sapiens Infant Infant, Newborn Language Development Disorders Microcephaly Phenotype Polyhydramnios Pregnancy Ring Chromosomes Tissue Array Analysis
3
(39.0%)		 27625853
 Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients.
Abdallah-Bouhjar IB, Mougou-Zerelli S, Hannachi H, Gmidene A, Labalme A, Soyah N, Sanlaville D, Saad A, Elghezal H.
J Pediatr Genet. 2013;2(3):147-55.
Microcephaly
3
(39.0%)		 23661454
 Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13.
Su PH, Chen CP, Su YN, Chen SJ, Lin LL, Chen JY.
Genet Mol Res. 2013;12(2):1311-7.
Microcephaly
Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 13 Facies Females Homo sapiens Microcephaly Mosaicism Ring Chromosomes
3
(39.0%)		 18203171
 Chromosome deletions in 13q33-34: report of four patients and review of the literature.
Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linne M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A.
Am J Med Genet A. 2008;146A(3):337-42.
Microcephaly
ARHGEF7 EFNB2
Adult Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 13 Females Homo sapiens Infant Infant, Newborn Intellectual Disability Male Microcephaly
3
(39.0%)		 15326636
 Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.
Bedoyan JK, Flore LA, Alkatib A, Ebrahim SA, Bawle EV.
Am J Med Genet A. 2004;129A(3):316-20.
Microcephaly
African American Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 13 Developmental Disabilities Females Fluorescent in Situ Hybridization Homo sapiens Hyperpigmentation Phenotype Ring Chromosomes
3
(39.0%)		 3806666
 Tissue-specific mosaicism for the stability of a ring 13 chromosome.
McCorquodale MM, Kolacki P, Kurczynski TW, Baugh E.
J Ment Defic Res. 1986;30 ( Pt 4):389-99.
Microcephaly
Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 13 Females Fibroblasts Homo sapiens Infant Lymphocyte Mosaicism Ring Chromosomes
3
(39.0%)		 1363214
 Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case.
Hou JW, Liu CH, Wang TR, Zhu HM, Jiang S, Sciorra LJ, Lee ML.
J Formos Med Assoc. 1992;91(11):1108-11.
Microcephaly
Child, Preschool Chromosome Aberrations Chromosomes, Human, Pair 13 Fluorescent in Situ Hybridization Homo sapiens Male Mosaicism Ring Chromosomes
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0001510 Growth delay Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000048 Bifid scrotum Frequent (79-30%)
HP:0000054 Micropenis Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000832 Primary hypothyroidism Frequent (79-30%)
HP:0002652 Skeletal dysplasia Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0005927 Aplasia/hypoplasia involving bones of the hand Frequent (79-30%)
HP:0000218 High palate Occasional (29-5%)
HP:0000243 Trigonocephaly Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000322 Short philtrum Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000358 Posteriorly rotated ears Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0000676 Abnormality of the incisor Occasional (29-5%)
HP:0000717 Autism Occasional (29-5%)
HP:0000957 Cafe-au-lait spot Occasional (29-5%)
HP:0001000 Abnormality of skin pigmentation Occasional (29-5%)
HP:0001290 Generalized hypotonia Occasional (29-5%)
HP:0001596 Alopecia Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002023 Anal atresia Occasional (29-5%)
HP:0002323 Anencephaly Occasional (29-5%)
HP:0009601 Aplasia/Hypoplasia of the thumb Occasional (29-5%)
HP:0011301 Absent foot Occasional (29-5%)
HP:0012211 Abnormal renal physiology Occasional (29-5%)
HP:0030032 Partial absence of foot Occasional (29-5%)
HP:0100779 Urogenital sinus anomaly Occasional (29-5%)
HP:0000479 Abnormal retinal morphology Very rare (4-1%)
HP:0001274 Agenesis of corpus callosum Very rare (4-1%)
HP:0003256 Abnormality of the coagulation cascade Very rare (4-1%)
HP:0005233 Hypoplasia of the gallbladder Very rare (4-1%)
HP:0009919 Retinoblastoma Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 17

HPO ID Term # of case reports
HP:0000252 Microcephaly 5
HP:0000062 Ambiguous genitalia 4
HP:0002323 Anencephaly 2
HP:0004322 Short stature 2
HP:0000047 Hypospadias 1
HP:0000256 Macrocephaly 1
HP:0000347 Micrognathia 1
HP:0000541 Retinal detachment 1
HP:0000717 Autism 1
HP:0000739 Anxiety 1
HP:0000767 Pectus excavatum 1
HP:0001249 Intellectual disability 1
HP:0002023 Anal atresia 1
HP:0005994 Nodular goiter 1
HP:0007268 Aprosencephaly 1
HP:0008839 Hypoplastic pelvis 1
HP:0030148 Heart murmur 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID