Neuropathology of brain and spinal malformations in a case of monosomy 1p36
Open accessAbstract
Monosomy 1p36 is the most common subtelomeric chromosomal deletion linked to mental retardation and seizures. Neuroimaging studies suggest that monosomy 1p36 is associated with brain malformations including polymicrogyria and nodular heterotopia, but the histopathology of these lesions is unknown. Here we present postmortem neuropathological findings from a 10 year-old girl with monosomy 1p36, who died of respiratory complications. The findings included micrencephaly, periventricular nodular heterotopia in occipitotemporal lobes, cortical dysgenesis resembling polymicrogyria in dorsolateral frontal lobes, hippocampal malrotation, callosal hypoplasia, superiorly rotated cerebellum with small vermis, and lumbosacral hydromyelia. The abnormal cortex exhibited “festooned” (undulating) supragranular layers, but no significant fusion of the molecular layer. Deletion mapping demonstrated single copy loss of a contiguous 1p36 terminal region encompassing many important neurodevelopmental genes, among them four HES genes implicated in regulating neural stem cell differentiation, and TP73 , a monoallelically expressed gene. Our results suggest that brain and spinal malformations in monosomy 1p36 may be more extensive than previously recognized, and may depend on the parental origin of deleted genes. More broadly, our results suggest that specific genetic disorders may cause distinct forms of cortical dysgenesis.
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?
In all human chromosomal aberration syndromes, including trisomies, monosomies, polyploidies, disomies and imprinting errors or sex chromosome anomalies, structural abnormalities of (pre)frontal as well as many other areas are common.
“In all human chromosomal aberration syndromes, including trisomies, monosomies (e.g., Turner syndrome, monosomy 1p36), polyploidies, disomies and imprinting errors or sex chromosome anomalies, structural abnormalities of (pre)frontal as well as many other areas are common [61, 288–292].”
From Development of prefrontal cortex (2022) · cites this paper as [61]
The Results describe frontal cortical dysgenesis and abnormalities in several other regions in a patient with monosomy 1p36, supporting this syndrome as an example. The Background says significant developmental brain malformations occur in only some cases, and this single-case study does not establish that frontal abnormalities are common in monosomy 1p36. It does not address the other chromosomal syndromes in the citing sentence. (LLM, conf=0.84)
Experimental — accuracy not yet measured
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
The Human Genome Browser at UCSC
Kent, W. J., Sugnet, C. W., Furey, T. S., Roskin, K. M., Pringle, T. H., Zahler, A. M., & Haussler, A. D. (2002) · Genome Research · doi:10.1101/gr.229102 · Cited by 10,400 · see citing works
Yang, A., Walker, N., Bronson, R. T., Kaghad, M., Oosterwegel, M. A., Bonnin, J., Vagner, C., Bonnet, H., Dikkes, P., Sharpe, A. H., et al. (2000) · Nature · doi:10.1038/35003607 · Cited by 989 · see citing works
A developmental and genetic classification for malformations of cortical development
Barkovich, A. J., Kuzniecky, R., Jackson, G. D., Guerrini, R., & Dobyns, W. B. (2005) · Neurology · doi:10.1212/01.wnl.0000183747.05269.2d · Cited by 719 · see citing works
Self-citationImayoshi, I., Sakamoto, M., Yamaguchi, M., Mori, K., & Kageyama, R. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.4987-09.2010 · Cited by 716 · see citing works
The Hes gene family: repressors and oscillators that orchestrate embryogenesis
Kageyama, R., Ohtsuka, T., & Kobayashi, T. (2007) · Development · doi:10.1242/dev.000786 · Cited by 683 · see citing works
Messiaen, L. M., Callens, T., Mortier, G. R., Beysen, D., Vandenbroucke, I., Roy, N. V., Speleman, F., & Paepe, A. D. (2000) · Human Mutation · doi:10.1002/1098-1004(200006)15:6 · Cited by 520 · see citing works
Dibbens, L. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh146 · Cited by 346 · see citing works
Shapira, S. K., McCaskill, C., Northrup, H., et al. (1997) · The American Journal of Human Genetics · doi:10.1086/515520 · Cited by 344 · see citing works
Battaglia, A., Hoyme, H. E., Dallapiccola, B., Zackai, E. H., Hudgins, L., McDonald‐McGinn, D. M., Bahi‐Buisson, N., Romano, C., Williams, C. A., Brailey, L. L., et al. (2008) · PEDIATRICS · doi:10.1542/peds.2007-0929 · Cited by 308 · see citing works
Heilstedt, H. A., Ballif, B. C., Howard, L. A., Lewis, R. A., Stal, S., Kashork, C. D., Bacino, C. A., Shapira, S. K., & Shaffer, L. G. (2003) · The American Journal of Human Genetics · doi:10.1086/375179 · Cited by 296 · see citing works
Self-citationRoles of Hes genes in neural development
Kageyama, R., Ohtsuka, T., & Kobayashi, T. (2008) · Development Growth & Differentiation · doi:10.1111/j.1440-169x.2008.00993.x · Cited by 284 · see citing works
Genetics and molecular basis of human peroxisome biogenesis disorders
Waterham, H. R., & Ebberink, M. S. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.04.006 · Cited by 283 · see citing works
Monosomy 1p36 deletion syndrome
Gajęcka, M., Mackay, K. L., & Shaffer, L. G. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30154 · Cited by 267 · see citing works
Self-citationGuerrini, R., Dobyns, W. B., & Barkovich, A. J. (2008) · Trends in Neurosciences · doi:10.1016/j.tins.2007.12.004 · Cited by 240 · see citing works
Self-citationAhmad‐Annuar, A., Ciani, L., Simeonidis, I., Herreros, J., Fredj, N. B., Rosso, S. B., Hall, A. C., Brickley, S. G., & Salinas, P. C. (2006) · The Journal of Cell Biology · doi:10.1083/jcb.200511054 · Cited by 233 · see citing works
MRI abnormalities following febrile status epilepticus in children
Shinnar, S., Bello, J. A., Chan, S., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e318266fcc5 · Cited by 216 · see citing works
Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis
Powers, J. M., & Moser, H. W. (1998) · Brain Pathology · doi:10.1111/j.1750-3639.1998.tb00139.x · Cited by 208 · see citing works
Use of targeted array‐based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?
Bejjani, B. A., Saleki, R., Ballif, B. C., Rorem, E. A., Sundin, K., Theisen, A. P., Kashork, C. D., & Shaffer, L. G. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30621 · Cited by 193 · see citing works
Self-citationFerland, R. J., Bátiz, L. F., Neal, J., Lian, G., Bundock, E. A., Lu, J., Hsiao, Y.-C., Diamond, R. E., Mei, D., Banham, A. H., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn377 · Cited by 189 · see citing works
Hevner, R. F., Daza, R. A. M., Englund, C., Kohtz, J., & Fink, A. (2004) · Neuroscience · doi:10.1016/j.neuroscience.2003.11.033 · Cited by 180 · see citing works
Malformations of Cortical Development
Pang, T. D., Atefy, R., & Sheen, V. L. (2008) · The Neurologist · doi:10.1097/nrl.0b013e31816606b9 · Cited by 173 · see citing works
Dobyns, W. B., Mirzaa, G., Christian, S. L., Petras, K. S., Roseberry, J. A., Clark, G., Curry, C. J., McDonald‐McGinn, D. M., Medne, L., Zackai, E. H., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32293 · Cited by 173 · see citing works
Self-citationIdentification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function
Huzé, C., Bauché, S., Richard, P., Chevessier, F., Goillot, E., Gaudon, K., Ammar, A. B., Chaboud, A., Grosjean, I., Lecuyer, H.-A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.06.015 · Cited by 172 · see citing works
Thompson, P. M., Gotoh, T., Kok, M., White, P. S., & Brodeur, G. M. (2003) · Oncogene · doi:10.1038/sj.onc.1206211 · Cited by 171 · see citing works
The Human Brain During the Second Trimester
Bayer, S. A., & Altman, J. (2005) · CRC Press eBooks · doi:10.1201/9780203507483 · Cited by 152 · see citing works
Gajęcka, M., Yu, W., Ballif, B. C., Glotzbach, C. D., Bailey, K. A., Shaw, C. A., Kashork, C. D., Heilstedt, H. A., Ansel, D. A., Theisen, A. P., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201302 · Cited by 148 · see citing works
Self-citationHevner, R. F. (2007) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3180301c06 · Cited by 147 · see citing works
Self-citationBahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., et al. (2010) · Brain · doi:10.1093/brain/awq259 · Cited by 144 · see citing works
The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
Barkovich, A. J., Koch, T., & Carrol, C. L. (1991) · Annals of Neurology · doi:10.1002/ana.410300204 · Cited by 141 · see citing works
Self-citationColmenares, C., Heilstedt, H. A., Shaffer, L. G., et al. (2001) · Nature Genetics · doi:10.1038/ng770 · Cited by 130 · see citing works
Self-citationBernasconi, N., Kınay, D., Andermann, F., Antel, S. B., & Bernasconi, A. (2005) · Brain · doi:10.1093/brain/awh599 · Cited by 129 · see citing works
Developmental Roles of p73 in Cajal-Retzius Cells and Cortical Patterning
Meyer, G., Socorro, A. C., Pérez‐García, C. G., Millán, L. M., Walker, N., & Caput, D. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.3060-04.2004 · Cited by 124 · see citing works
Malformations of Cortical Development
Aronica, E., Becker, A. J., & Spreafico, R. (2012) · Brain Pathology · doi:10.1111/j.1750-3639.2012.00581.x · Cited by 114 · see citing works
Gajęcka, M., Saitta, S. C., Gentles, A. J., Campbell, L., Ciprero, K. L., Geiger, E. A., Catherwood, A., Rosenfeld, J. A., Shaikh, T. H., & Shaffer, L. G. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33733 · Cited by 109 · see citing works
Self-citationExpanded characterization of the social interaction abnormalities in mice lacking Dvl1
Long, J. M., LaPorte, P., Paylor, R. E., & Wynshaw-Boris, A. J. (2004) · Genes Brain & Behavior · doi:10.1046/j.1601-183x.2003.00045.x · Cited by 98 · see citing works
Maystadt, I., Rezsöhazy, R., Barkats, M., Duqué, S. I., Vannuffel, P., Remacle, S., Lambert, B., Najimi, M., Sokal, E. M., Münnich, A., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518900 · Cited by 92 · see citing works
Potts, R. C., Zhang, P., Wurster, A. L., Precht, P., Mughal, M. R., Wood, W. H., Zhang, Y., Becker, K. G., Mattson, M. P., & Pazin, M. J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0024515 · Cited by 87 · see citing works
The Human Brain During the Third Trimester
Bayer, S. A., & Altman, J. (2003) · CRC Press eBooks · doi:10.1201/9780203494943 · Cited by 83 · see citing works
Prevalence of Hippocampal Malrotation in a Population without Seizures: Fig 1.
Gamss, R., Slasky, S. E., Bello, J. A., et al. (2009) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1657 · Cited by 80 · see citing works
Incidental detection of hippocampal sclerosis on MR images: is it significant?
Moore, K. R., Swallow, C. E., & Tsuruda, J. S. (1999) · PubMed · Cited by 78 · see citing works
A golgi analysis of unlayered polymicrogyria
Ferrer, I. (1984) · Acta Neuropathologica · doi:10.1007/bf00689830 · Cited by 77 · see citing works
Loss of imprinting and allele switching of p73 in renal cell carcinoma
Mai, M., Qian, C., Yokomizo, A., et al. (1998) · Oncogene · doi:10.1038/sj.onc.1202099 · Cited by 76 · see citing works
Judkins, A. R., Martínez, D., Ferreira, P. C. L., Dobyns, W. B., & Golden, J. A. (2011) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31821ccf1c · Cited by 74 · see citing works
Self-citationDonaudy, F., Zheng, L., Ficarella, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.032086 · Cited by 68 · see citing works
The Protooncogene Ski Controls Schwann Cell Proliferation and Myelination
Atanasoski, S., Notterpek, L. M., Lee, H.-Y., et al. (2004) · Neuron · doi:10.1016/j.neuron.2004.08.001 · Cited by 66 · see citing works
Neural tube defects and impaired neural progenitor cell proliferation in Gβ1 ‐deficient mice
Okae, H., & Iwakura, Y. (2010) · Developmental Dynamics · doi:10.1002/dvdy.22256 · Cited by 62 · see citing works
Rosenfeld, J. A., Crolla, J. A., Tomkins, S. E., Bader, P. I., Morrow, B. E., Gorski, J. L., Troxell, R., Forster‐Gibson, C., Cilliers, D. D., Hislop, R. G., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33516 · Cited by 62 · see citing works
Self-citationRedon, R., Rio, M., Gregory, S. G., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.023861 · Cited by 59 · see citing works
Yonezawa, T., Ohtsuka, A., Yoshitaka, T., Hirano, S., Nomoto, H., Yamamoto, K., & Ninomiya, Y. (2003) · Glia · doi:10.1002/glia.10279 · Cited by 55 · see citing works
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
Kurosawa, K., Kawame, H., Okamoto, N., et al. (2005) · Brain and Development · doi:10.1016/j.braindev.2005.02.004 · Cited by 54 · see citing works
Perkowski, J. J., & Murphy, G. G. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.2634-10.2011 · Cited by 54 · see citing works
Aberrant neuronal-glial differentiation in Taylor-type focal cortical dysplasia (type IIA/B)
Englund, C., Folkerth, R. D., Born, D. E., Lacy, J. M., & Hevner, R. F. (2005) · Acta Neuropathologica · doi:10.1007/s00401-005-1005-9 · Cited by 49 · see citing works
Self-citationGiráldez, T., Afonso‐Oramas, D., Cruz‐Muros, I., García‐Marín, V., Pagel, P., González‐Hernández, T., & de la Rosa, D. Á. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.04622.x · Cited by 49 · see citing works
Patterns of hippocampal abnormalities in malformations of cortical development
Montenegro, M. A. (2005) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2005.070417 · Cited by 49 · see citing works
Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature
Campeau, P. M., Mew, N. A., Cartier, L., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32563 · Cited by 43 · see citing works
Periventricular Heterotopia May Result From Radial Glial Fiber Disruption
Santi, M. R., & Golden, J. A. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.9.856 · Cited by 42 · see citing works
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia
Neal, J., Apse, K. A., Şahin, M., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31334 · Cited by 41 · see citing works
Allen, J. M., Zamurs, L. K., Brachvogel, B., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m806968200 · Cited by 40 · see citing works
D’Angelo, C. S., Kohl, I., Varela, M. C., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33160 · Cited by 40 · see citing works
(2008) · PEDIATRICS · doi:10.1542/peds.2008-0990 · Cited by 38 · see citing works
Actinfilin, a Brain-specific Actin-binding Protein in Postsynaptic Density
Chen, Y., Derin, R., Petralia, R. S., & Li, M. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m202076200 · Cited by 37 · see citing works
Kremer, T., Kempf, C., Wittenmayer, N., Nawrotzki, R., Kuner, T., Kirsch, J., & Dresbach, T. (2007) · FEBS Letters · doi:10.1016/j.febslet.2007.08.070 · Cited by 37 · see citing works
Jung, Y., Jin, J., Jeong, J., Kim, H., Park, N. R., & Choi, J. (2008) · Journal of Cellular Physiology · doi:10.1002/jcp.21438 · Cited by 36 · see citing works
Hippocampal abnormalities in malformations of cortical development
Kuchukhidze, G., Koppelstaetter, F., Unterberger, I., Dobesberger, J., Walser, G., Zamarian, L., Haberlandt, E., Maier, H., Ortler, M., Gotwald, T., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181df09b6 · Cited by 34 · see citing works
Layer-specific genes reveal a rudimentary laminar pattern in human nodular heterotopia
Garbelli, R., Rossini, L., Moroni, R. F., Watakabe, A., Yamamori, T., Tassi, L., Bramerio, M., Russo, G. L., Frassoni, C., & Spreafico, R. (2009) · Neurology · doi:10.1212/wnl.0b013e3181af3397 · Cited by 33 · see citing works
Yang, J., Czech, T., Yamada, J., et al. (2004) · Amino Acids · doi:10.1007/s00726-004-0138-9 · Cited by 31 · see citing works
Saito, S., Kawamura, R., Kosho, T., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32556 · Cited by 26 · see citing works
Hippocampal abnormalities associated with various congenital malformations
Dönmez, F. Y., Yıldırım, M. U., Erkek, N., Karacan, C. D., & Çoşkun, M. (2009) · Child s Nervous System · doi:10.1007/s00381-009-0823-9 · Cited by 21 · see citing works
Role of Phosphoinositide-Specific Phospholipase C η2 in Isolated and Syndromic Mental Retardation
Vasco, V. R. L. (2011) · European Neurology · doi:10.1159/000327307 · Cited by 16 · see citing works
Targeted disruption of Mib2 causes exencephaly with a variable penetrance
Wu, J. I., Rajendra, R., Barsi, J. C., Durfee, L. A., Benito, E., Gao, G., Kuruvilla, M., Hrdličková, R., Liss, A. S., & Artzt, K. (2007) · genesis · doi:10.1002/dvg.20349 · Cited by 15 · see citing works
Bilateral Perisylvian Polymicrogyria and Chromosome 1 Anomaly
Ribeiro, M. D. C., de Sousa, S. G., Freitas, M. M., et al. (2007) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2007.01.015 · Cited by 13 · see citing works
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
Saito, Y., Kubota, M., Kurosawa, K., et al. (2010) · Brain and Development · doi:10.1016/j.braindev.2010.07.004 · Cited by 13 · see citing works
Minimal genotype–phenotype correlation for small deletions within distal 1p36
Buck, A., du Souich, C., & Boerkoel, C. F. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34333 · Cited by 11 · see citing works
Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia
Descartes, M. D., Mikhail, F. M., Franklin, J. C., McGrath, T. M., & Bebin, M. (2011) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2011.06.002 · Cited by 11 · see citing works
Choroid Plexus Hyperplasia and Monosomy 1p36: Report of New Findings
Puvabanditsin, S., Garrow, E., Patel, N., et al. (2008) · Journal of Child Neurology · doi:10.1177/0883073808314364 · Cited by 10 · see citing works
'Identical' twins with discordant karyotypes
(1999) · Pure Amsterdam UMC · doi:10.1002/(sici)1097-0223(199901)19:1 · Cited by 1 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Development of prefrontal cortex
Kolk, S. M., & Rakic, P. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-021-01137-9 · Cited by 378 · see citing works
Deconstructing cortical folding: genetic, cellular and mechanical determinants
Llinares-Benadero, C., & Borrell, V. (2019) · Nature Reviews Neuroscience · doi:10.1038/s41583-018-0112-2 · Cited by 243 · see citing works
Genome-wide Analysis of the Role of Copy Number Variation in Schizophrenia Risk in Chinese
Li, Z., Chen, J., Xu, Y., Yi, Q., Ji, W., Wang, P., Shen, J., Song, Z., Wang, M., Yang, P., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.11.012 · Cited by 72 · see citing works
- Authors
- Shiba, N., Daza, R. A., Shaffer, L. G., Barkovich, A. J., Dobyns, W. B., & Hevner, R. F.
- Affiliations
- Seattle Children's Research Institute (US)
- University of California, San Francisco (US)
- University of Washington (US)
- Corresponding author
- Hevner, Robert F
- Venue
- Acta Neuropathologica Communications
- Published
- 2013-08-02
- Volume
- 1
- Issue
- 1
- Pages
- 45-45
- ISSN
- 2051-5960 (ISSN-L)
- PMC
- PMC3893467
- OpenAlex
- W2144301600
- Cited by
- 26
- References
- 76
- Citations by year
- 2022: 1 · 2021: 2 · 2020: 5 · 2019: 4 · 2018: 3 · 2017: 3 · 2016: 2 · 2015: 2 · 2014: 2 · 2013: 1
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Acta Neuropathologica Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- subtelomeric deletion, brain malformations, spinal malformations, polymicrogyria, nodular heterotopia, cortical dysgenesis, microcephaly, hippocampal malrotation, cerebellar vermis, Hes genes, p73, neurodevelopmental genes, intellectual disability, seizures
- MeSH terms
- Abnormalities, Multiple, Brain, Child, Chromosome Deletion, Chromosomes, Human, Pair 1, Female, Humans, Infant, Magnetic Resonance Imaging, Spinal Cord, Fatal Outcome
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