Structural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study
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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 [290]
The spines that are present in Down syndrome exhibit morphological anomalies, such as abnormally small and exceptionally long, thin spines.
“Moreover, the spines that are present exhibit morphological anomalies, such as abnormally small and exceptionally long, thin spines115–118 (Fig. 3a).”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [115]
The earliest reports using Golgi staining of human brain tissue provided consistent evidence that newborns and infants with Down syndrome have substantial deficits in spine density and abnormal spine morphology.
“The earliest reports using Golgi staining of human brain tissue provided consistent evidence that newborns and infants with DS have substantial deficits in spine density and abnormal spine morphology115–118.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [115]
These differences are present across the cortical laminae.
“These differences are present across the cortical laminae115–118.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [115]
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The cellular pathology of microgyria
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- Authors
- Marin-Padilla, M.
- Venue
- Brain Research
- Publisher
- Elsevier BV
- Published
- 1972-09
- Volume
- 44
- Issue
- 2
- Pages
- 625-629
- ISSN
- 0006-8993 (ISSN-L)
- OpenAlex
- W2090118472
- Cited by
- 290
- References
- 19
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 5 · 2023: 7 · 2022: 3 · 2021: 7 · 2020: 3 · 2019: 8 · 2018: 6 · 2017: 9 · 2016: 3 · 2015: 5 · 2014: 8 · 2013: 7 · 2012: 5
- FWCI
- 1.51
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain Research (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- 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
- Keywords
- chromosomal abnormalities, cerebral cortex, structural abnormalities, synaptic remodeling, astrocytes, synaptogenesis, synaptic pruning, neuronal connectivity, neurological disorders
- MeSH terms
- Cerebral Cortex, Chromosome Aberrations, Chromosomes, Human, 13-15, Chromosomes, Human, 21-22 and Y, Dendrites, Down Syndrome, Female, Humans, Infant, Infant, Newborn, Motor Cortex, Pregnancy, Pyramidal Tracts, Trisomy, Chromosome Disorders
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