Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
Open accessAbstract
N This is the largest series of patients to have been molecularly characterised and includes the r( 22) patient with the smallest deletion described to date.The minimum critical region responsible for the monosomy 22q13 phenotype includes the genes PROSAP2/SHANK3, ACR, and RABL2B, but not ARSA.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Loss of a functional copy of the SHANK3 gene leads to the neurobehavioral manifestations of 22q13 deletion syndrome and/or to autism spectrum disorders.
“Loss of a functional copy of the SHANK3 gene leads to the neurobehavioral manifestations of 22q13 deletion syndrome and/or to autism spectrum disorders.”
From Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication (2010) · cites this paper as [21]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236 · see citing works
The DNA sequence of human chromosome 21
Hattori, M., Fujiyama, A., Taylor, T. D., Watanabe, H., Yada, T., Park, H.-S., Toyoda, A., Ishii, K., Totoki, Y., Choi, D., et al. (2000) · Nature · doi:10.1038/35012518 · Cited by 1,475 · see citing works
The DNA sequence of human chromosome 22
Dunham, I., Hunt, A. R., Collins, J. E., Bruskiewich, R., Beare, D. M., Clamp, M. E., Smink, L. J., Ainscough, R., Almeida, J. P., Babbage, A., et al. (1999) · Nature · doi:10.1038/990031 · Cited by 1,147 · see citing works
Deininger, P. L., & Batzer, M. A. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2864 · Cited by 911 · see citing works
Heterogeneity in telomere length of human chromosomes
Lansdorp, P. M. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.5.685 · Cited by 879 · see citing works
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
Jonathan Flint, C., Wilkie, A. O. M., Buckle, V. J., Winter, R. M., Holland, A. J., & McDermid, H. E. (1995) · Nature Genetics · doi:10.1038/ng0295-132 · Cited by 505 · see citing works
Boeckers, T. M., Bockmann, J., Kreutz, M. R., & Gundelfinger, E. D. (2002) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2002.00931.x · Cited by 349 · see citing works
Does ?ring syndrome? exist? An analysis of 207 case reports on patients with a ring autosome
Kosztol�nyi, G. (1987) · Human Genetics · doi:10.1007/bf00591082 · Cited by 320 · see citing works
Bonaglia, M. C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A., & Zuffardi, O. (2001) · The American Journal of Human Genetics · doi:10.1086/321293 · Cited by 309 · see citing works
Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis
Knight, S. J. L., & Flint, J. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.6.401 · Cited by 297 · see citing works
A metric map of humans: 23,500 loci in 850 bands
Collins, A. R., Frézal, J., Teague, J., & Morton, N. E. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.25.14771 · Cited by 260 · see citing works
Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia
Mant, R., Williams, J. H., Asherson, P. J., Parfitt, E., McGuffin, P., & Owen, M. J. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320540106 · Cited by 180 · see citing works
Wahls, W. P., Wallace, L. J., & Moore, P. D. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.2.785 · Cited by 169 · see citing works
Wong, A. C., Ning, Y., Jonathan Flint, C., Clark, K., Dumanski, J. P., Ledbetter, D. H., & McDermid, H. E. (1997) · Europe PMC (PubMed Central) · Cited by 132 · see citing works
GT Repeats Are Associated with Recombination on Human Chromosome 22Preprint
Majewski, J., & Ott, J. (2000) · Genome Research · doi:10.1101/gr.10.8.1108 · Cited by 127 · see citing works
Nesslinger, N. J. (1993) · PubMed · doi:10.7939/r35x25m4j · Cited by 124 · see citing works
Tagarro, I., Fern�ndez-Peralta, A. M., & Gonz�lez-Aguilera, J. J. (1994) · Human Genetics · doi:10.1007/bf00201662 · Cited by 113 · see citing works
Biet, E., Sun, J., & Dutreix, M. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.2.596 · Cited by 112 · see citing works
Prasad, C., Prasad, A. N., Chodirker, B. N., Lee, C., Dawson, A. K., Jocelyn, L. J., & Chudley, A. E. (2000) · Clinical Genetics · doi:10.1034/j.1399-0004.2000.570203.x · Cited by 103 · see citing works
Gonadal function in young patients successfully treated for Hodgkin disease
Papadakis, V., Vlachopapadopoulou, E. A., Syckle, K. V., Ganshaw, L., Kalmanti, M., TAN, C. T. C., & Sklar, C. A. (1999) · Medical and Pediatric Oncology · doi:10.1002/(sici)1096-911x(199905)32:5 · Cited by 97 · see citing works
FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid, B., Schoumans, J., Annerén, G., Tapia‐Páez, I., Dumanski, J. P., Blennow, E., & Nordenskjöld, M. (2002) · Human Genetics · doi:10.1007/s00439-002-0713-7 · Cited by 93 · see citing works
Greig, G. M., & Willard, H. F. (1992) · Genomics · doi:10.1016/0888-7543(92)90450-7 · Cited by 88 · see citing works
Two 22q telomere deletions serendipitously detected by FISH.
Precht, K. S., Lese, C. M., Spiro, R., Huttenlocher, P. R., Johnston, K. M., Baker, J. C., Christian, S. L., Kittikamron, K., & Ledbetter, D. H. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.11.939 · Cited by 83 · see citing works
Genes, pseudogenes, and Alu sequence organization across human chromosomes 21 and 22
Chen, C., Gentles, A. J., Jurka, J., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.052692099 · Cited by 70 · see citing works
Tracy, R. B., Baumohl, J. K., & Kowalczykowski, S. C. (1997) · Genes & Development · doi:10.1101/gad.11.24.3423 · Cited by 66 · see citing works
Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
Phelan, M. C., Thomas, G. R., Saul, R. A., Rogers, R. C., Taylor, H. A., Wenger, D. A., & McDermid, H. E. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320430524 · Cited by 63 · see citing works
Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
Doheny, K. F., McDermid, H. E., Harum, K. H., Thomas, G. H., & Raymond, G. V. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.8.640 · Cited by 60 · see citing works
Chromosomal location by in situ hybridization of the human Sau3A family of DNA repeats
Agresti, A., Rainaldi, G., Lobbiani, A., et al. (1987) · Human Genetics · doi:10.1007/bf00284102 · Cited by 53 · see citing works
Frommer, M., Prosser, J., & Vincent, P. C. (1984) · Nucleic Acids Research · doi:10.1093/nar/12.6.2887 · Cited by 49 · see citing works
Multifocal meningiomas in a patient with a constitutional ring chromosome 22.
Arinami, T., Kondo, I., Hamaguchi, H., et al. (1986) · Journal of Medical Genetics · doi:10.1136/jmg.23.2.178 · Cited by 47 · see citing works
Mammalian meiotic recombination: a reexamination
Ashley, T. (1994) · Human Genetics · doi:10.1007/bf00206950 · Cited by 46 · see citing works
Cryptic subtelomeric translocations in the 22q13 deletion syndrome
Praphanphoj, V., Goodman, B. K., Thomas, G. H., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.1.58 · Cited by 43 · see citing works
Tagarro, I., Wiegant, J. C. A. G., Raap, A. K., et al. (1994) · Human Genetics · doi:10.1007/bf00210595 · Cited by 41 · see citing works
Characterization of Short Tandem Repeats from Thirty-One Human TelomeresPreprint
Rosenberg, M. J., Hui, L., Ma, J., et al. (1997) · Genome Research · doi:10.1101/gr.7.9.917 · Cited by 39 · see citing works
Ring chromosome 22 and autism: Report and review
MacLean, J. E., Teshima, I. E., Szatmári, P., & Nowaczyk, M. G. J. M. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000228)90:5 · Cited by 35 · see citing works
Multiple meningiomas in a patient with constitutional ring chromosome 22
Petrella, R., Levine, S., Wilmot, P. L., et al. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470211 · Cited by 34 · see citing works
Vries, B. B. A. D., Bitner-Glindzicz, M. A. K., Knight, S., Tyson, J., MacDermot, K. D., Jonathan Flint, C., Malcolm, S., & Winter, R. M. (2000) · Clinical Genetics · doi:10.1034/j.1399-0004.2000.580610.x · Cited by 32 · see citing works
Deletion mapping by FISH with BACs in patients with partial monosomy 22q13
Schr�der, K., Schuffenhauer, S., Seidel, H., Bartsch, O., Blin, N., Hinkel, G. K., & Schmitt, H. (1998) · Human Genetics · doi:10.1007/s004390050739 · Cited by 29 · see citing works
Ring chromosome 22 and neurofibromatosis
Tommerup, N., Warburg, M., Gieselmann, V., et al. (1992) · Clinical Genetics · doi:10.1111/j.1399-0004.1992.tb03233.x · Cited by 27 · see citing works
Razin, S. V., Ioudinkova, E. S., Trifonov, E. N., et al. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.4372 · Cited by 27 · see citing works
Genetic Polymorphism and Recombination in the Subtelomeric Region of Chromosome 14q
Wintle, R. F., Nygaard, T. G., Herbrick, J.-A. S., et al. (1997) · Genomics · doi:10.1006/geno.1996.4572 · Cited by 25 · see citing works
Mas, P. D., Chassaing, N., Chaix, Y., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.4.e17 · Cited by 23 · see citing works
A 1.5-Mb Contig within the Cat Eye Syndrome Critical Region at Human Chromosome 22q11.2
Johnson, A., Minoshima, S., Asakawa, S., et al. (1999) · Genomics · doi:10.1006/geno.1999.5757 · Cited by 22 · see citing works
Neurofibromatosis in a man with a ring 22: In situ hybridization studies
Duncan, A. M. V., Partington, M. W., & Soudek, D. (1987) · Cancer Genetics and Cytogenetics · doi:10.1016/0165-4608(87)90173-7 · Cited by 22 · see citing works
Kehrer‐Sawatzki, H., Udart, M., Krone, W., et al. (1997) · Human Genetics · doi:10.1007/s004390050467 · Cited by 22 · see citing works
March 1997‐4 Year Old Girl with Ring Chromosome 22 and Brain Tumor
Rubio, A. I. (1997) · Brain Pathology · doi:10.1111/j.1750-3639.1997.tb00902.x · Cited by 21 · see citing works
Chromosome studies in IgA‐deficient patients
Taalman, R. D. F. M., Weemaes, C. M. R., Hustinx, T. W. J., et al. (1987) · Clinical Genetics · doi:10.1111/j.1399-0004.1987.tb03330.x · Cited by 18 · see citing works
Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation
Frizzley, J. K., Stephan, M. J., Lamb, A. N., et al. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.3.237 · Cited by 16 · see citing works
Recombination, interference and sequence: comparison of chromosomes 21 and 22
Tapper, W., Ke, X., Morton, N. E., et al. (2002) · Annals of Human Genetics · doi:10.1017/s0003480001008946 · Cited by 12 · see citing works
Brennan, M. D., Neibergs, H. L., Phillips, K., et al. (2000) · Genomics · doi:10.1006/geno.1999.6110 · Cited by 7 · see citing works
Lee, K., Kim, S., Lee, M. H., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10093 · Cited by 5 · see citing works
Nakamura, H., Itoyama, T., Niikawa, N., et al. (1998) · Leukemia Research · doi:10.1016/s0145-2126(98)00069-1 · Cited by 4 · see citing works
Plaja, A., Mir�, R., Fuster, C., Perez, C., Sarret, E., Esteve, P., & Egozcue, J. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20010615)101:2 · Cited by 3 · see citing works
Lévy, N., Navarro, A., Depetris, D., et al. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000134358 · Cited by 2 · see citing works
Self-citation
Flagged first, then by citations
Research works printed but not linked: 4
- Phelan MC, Rogers RC, Saul RA, et al. 22q13 deletion syndrome. Am J Med Genet 2001;101:91-9.
- Schinzel AA, Basaran S, Bernasconi F, et al. Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet 1994;54:21-4.
- Korones DN, Meyers SP, Rubio A, et al. A 4-year-old girl with a ventriculoperitoneal shunt metastasis of a central nervous system atypical teratoid/rhabdoid tumor. Med Pediatr Oncol 1999;32:389-91.
- Razin SV, Ioudinkova ES, Trifonov EN, et al. Non-clonability correlates with genomic instability: a case study of a unique DNA region. J Mol Biol 2001;307:481-6.
Cited by
Sorted by citations
Bozdagi, O., Sakurai, T., Papapetrou, D., Wang, X., Dickstein, D. L., Takahashi, N., Kajiwara, Y., Yang, M., Katz, A. M., Scattoni, M. L., et al. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-15 · Cited by 584 · see citing works
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
Phelan, K., & McDermid, H. E. (2011) · Molecular Syndromology · doi:10.1159/000334260 · Cited by 460 · see citing works
Phelan, M. C. (2008) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-3-14 · Cited by 221 · see citing works
Bonaglia, M. C., Giorda, R., Beri, S., De Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002173 · Cited by 224 · see citing works
Self-citationBonaglia, M. C., Giorda, R., Mani, E., Aceti, G., Anderlid, B.-M., Baroncini, A., Pramparo, T., & Zuffardi, O. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.038604 · Cited by 211 · see citing works
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
Dhar, S. U., del Gaudio, D., German, J. R., Peters, S. U., Ou, Z., Bader, P. I., Berg, J. S., Blazo, M., Brown, C. W., Graham, B. H., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33253 · Cited by 138 · see citing works
Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood
Philippe, A., Boddaert, N., Vaivre-Douret, L., Robel, L., Danon-Boileau, L., Malan, V., de Blois, M.-C., Heron, D., Colleaux, L., Golse, B., et al. (2008) · Pediatrics · doi:10.1542/peds.2007-2584 · Cited by 108 · see citing works
Self-citationWilson, H. L., Crolla, J. A., Walker, D., Artifoni, L., Dallapiccola, B., Takano, T., Vasudevan, P., Huang, S., Maloney, V., Yobb, T., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.107 · Cited by 85 · see citing works
Verhoeven, W. M. A., Egger, J., Willemsen, Leijer, D., & Kleefstra (2012) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s30506 · Cited by 57 · see citing works
Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats
Jacot-Descombes, S., Keshav, N. U., Dickstein, D. L., Wicinski, B., Janssen, W. G. M., Hiester, L. L., Sarfo, E. K., Warda, T., Fam, M. M., Harony-Nicolas, H., et al. (2020) · Molecular Autism · doi:10.1186/s13229-020-00393-8 · Cited by 41 · see citing works
- Authors
- Luciani, J. J., de Mas, P., Depetris, D., Mignon-Ravix, C., Bottani, A., Prieur, M., Jonveaux, P., Philippe, A., Bourrouillou, G., de Martinville, B., Delobel, B., Vallee, L., Croquette, M.-F., & Mattei, M.-G.
- Affiliations
- Inserm (FR)
- University of Geneva (CH)
- Hôpital Necker-Enfants Malades (FR)
- Centre Hospitalier Régional et Universitaire de Nancy (FR)
- Hôpital Purpan (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Corresponding author
- Luciani, J J
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2003-09
- Volume
- 40
- Issue
- 9
- Pages
- 690-696
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1735584
- OpenAlex
- W2126439368
- Cited by
- 170
- References
- 54
- Citations by year
- 2025: 4 · 2024: 2 · 2023: 9 · 2022: 7 · 2021: 9 · 2020: 7 · 2019: 3 · 2018: 7 · 2017: 5 · 2016: 5 · 2015: 4 · 2014: 7 · 2013: 5 · 2012: 8
- FWCI
- 2.83
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- ring chromosome 22, critical region, ACR, arylsulfatase A, clinical phenotype, molecular characterization
- MeSH terms
- Adolescent, Adult, Mental Disorders, Child, Developmental Disabilities, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 20, Female, Humans, Infant, Male, Monosomy, Ring Chromosomes, Translocation, Genetic, Telomere, In Situ Hybridization, Fluorescence, Chromosome Disorders
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
