Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations

Ramer, Jeanette C.; Mowrey, Philip N.; Robins, David; Ligato, Saverio; Towfighi, Javad; Ladda, Roger L.

doi:10.1002/ajmg.1320370320

Cited by 65 publications

(50 citation statements)

References 18 publications

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“…In contrast, the patient in Langer et al [2006] had micrognathia, blepharophimosis, hypertelorism, and coloboma of the iris and retina. This is reminiscent of the clinical features described in other cases of del(2)(q31q33) [Ramer et al, 1990] and del(2)(q24-q31) .…”

supporting

confidence: 61%

Epilepsy and deletions at chromosome 2q24

Pereira

Vieira

Cau

et al. 2006

American J of Med Genetics Pt A

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supporting

confidence: 61%

Epilepsy and deletions at chromosome 2q24

Pereira

Vieira

Cau

et al. 2006

American J of Med Genetics Pt A

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“…To date, there are 27 reported patients with an interstitial deletion including the 2q33.1q33.3 region [Glass et al, 1989;Ramer et al, 1989Ramer et al, , 1990Rosenfeld et al, 2009;Urquhart et al, 2009;Rifai et al, 2010]. Only 2 carried deletions that did not include 2q33.1, the main band which is correlated with Glass syndrome according to the OMIM database ( fig.…”

Section: Resultsmentioning

confidence: 99%

Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

Papoulidis¹,

Paspaliaris²,

Papageorgiou³

et al. 2015

Cytogenet Genome Res

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A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.

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“…18 The association of extrinsic factors such as intrauterine cytomegalovirus infection, fetal cerebral ischemia due to placental perfusion failure, twin-to-twin transfusion syndrome, loss of a twin in utero, or maternal drug ingestion has been well documented in PMG. [19][20][21][22][23] Reports of PMG in association with malformation syndromes, 24,25 chromosomal abnormalities, 26,27 and the identification of mutations in genes (e.g. tubulin genes, RTTN, OCLN, KIF5C, KBP and LAMC3) [28][29][30][31][32][33][34][35][36][37] in patients with PMG, has resulted in an increased acknowledgement of the role of genetic factors in its pathogenesis.…”

Section: Discussionmentioning

confidence: 99%

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

Jansen

Robitaille

Honavar

et al. 2015

Develop Med Child Neuro

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PMG PolymicrogyriaAIM Polymicrogyria (PMG) is one of the most common forms of cortical malformation yet the mechanism of its development remains unknown. This study describes the histopathological aspects of PMG in a large series including a significant proportion of fetal cases.METHOD We have reviewed the neuropathology and medical records of 44 fetuses and 27 children and adults in whom the cortical architecture was focally or diffusely replaced by one or more festooning bands of neurons. RESULTSThe pial surface of the brain overlying the polymicrogyric cortex was abnormal in almost 90% of cases irrespective of the aetiology. This accords with animal studies indicating the importance of the leptomeninges in cortical development. The aetiology of PMG was highly heterogeneous and there was no correlation between cortical layering patterns and aetiology. PMG was almost always associated with other brain malformations. INTERPRETATIONThe inclusion of many fetal cases has allowed us to examine the early developmental stages of PMG. The study indicates the significance of surface signals responsible for human corticogenesis and the complex interaction between genetic and environmental factors leading to this common endpoint of cortical maldevelopment.Polymicrogyria (PMG) is a common and highly heterogeneous malformation of cortical development with variable clinical phenotype, imaging, and histology. 1-3 PMG may cause a variety of symptoms including seizures, developmental delay, motor problems, isolated language delay, feeding problems, microcephaly, and multiple congenital anomalies, all to a variable degree of severity. It usually occurs in association with other brain malformations and/or multiple congenital anomalies or intellectual disability. 1 During life, diagnosis of PMG is based on neuroimaging. The magnetic resonance imaging (MRI) features of PMG consist of an irregular and bumpy appearance of the cortex, with apparent cortical thickening, and a stippled grey-white matter junction.2,4 PMG can be focal or diffuse, unilateral or bilateral. Different imaging patterns have been described including bilateral frontal, frontoparietal, perisylvian, lateral parietal, parasagittal parietooccipital, and generalized, as well as unilateral PMG. 2,[5][6][7][8][9][10][11] Although histology is regarded as the diagnostic criterion standard, post-mortem pathology is rarely obtained. The descriptions in the neuropathological literature are based on patients who died or required surgery for intractable epilepsy and likely represent the most severe end of the spectrum. Detailed examination of fetal brains reveal the cortical malformation in the early developmental stages.The architectonic features of PMG were first described by Bielschowsky in 1915 12 and since by others. [13][14][15][16][17][18] Diagnostic criteria for PMG as defined by Friede in 1989 include abnormal arrangement of cell layers, an intracortical fibre plexus, extensive folding of all layers or of the upper layers only, and fusion of gyral surfaces. 16 Norma...

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Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations

Cited by 65 publications

References 18 publications

Epilepsy and deletions at chromosome 2q24

Epilepsy and deletions at chromosome 2q24

Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

The histopathology of polymicrogyria: a series of 71 brain autopsy studies

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