Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A clinico-pathological report is given on 4 cases of agyria (premature neonate to age 13 months), 3 cases of pachygyria (aged 2,5 to 4,3 years) and a boy aged 4,5 years with temporal pachygyria and frontal microgyrias. Clinical features, more pronounced in agyria than in pachygyria, were microcephaly, frequent facial anomalies, neonatal feeding difficulties, hypotonia with subsequent seizures, hypsarrhythmic EEG pattern in 3 children, arrest of psychomotor development and signs of decerebration. One case of agyria occurred with familial faciorenal dysplasia, two were associated with congenital heart disease, and the fourth with chromosomal abnormality. Morphologically, the colpocephalic brain showed a four-layered agyric pallium with radially aligned cell columns and periventricular heterotopias, lacking differentiation of the claustra, olivary heterotopias and cerebellar dysgenesias in the 4 younger infants. In the agyric neonate additional agenesis of corpus callosum was present. Pachygyric brains showed a six-layered cortex, periventricular heterotopias, lacking differentiation of the claustra, but no cerebello-olivary anomalies. Cytoarchitectonic analysis of the agyric cortex suggests a disorder of neuronal migration during stage III of neocortex formation (Rakic and Sidman) between the 11th and 13th fetal week, while the pachygyric cortex showing the later formed layers II and IV presumable is caused by an attenuated and later disorder acting in early stage IV of neocortex formation, i. e. around or after the 13th fetal week. Additional insula-claustrum dysplasia, olivary and cerebellar anomalies are due to concomittent migration disorders between the 11th and 14th week. Along this period there is a gradient from agyric to normal six-layered cortex, whereas microgyria presumably results from an event occurring after migration has terminated (after the 16th fetal week). Etiological factors of agyria-pachygyria may be both hereditary (familial lissencephaly-syndrome) and environmental ones (prenatal drug application or intrauterine perfusion disorders).
 ...
PMID:Agyria-pachygyria (lissencephaly syndrome). 98 18

Constitutional complex chromosomal rearrangements (CCRs) are considered rare cytogenetic events. Most apparently balanced CCRs are de novo and are usually found in patients with abnormal phenotypes. High-resolution techniques are unveiling genomic imbalances in a great percentage of these cases. In this paper, we report a patient with growth and developmental delay, dysmorphic features, nervous system anomalies (pachygyria, hypoplasia of the corpus callosum and cerebellum), a marked reduction in the ossification of the cranial vault, skull base sclerosis, and cardiopathy who presents a CCR with 9 breakpoints involving 4 chromosomes (3, 6, 8 and 14) and a 0.6-Mb deletion in 14q24.1. Although the only genomic imbalance revealed by the array technique was a deletion, the clinical phenotype of the patient most likely cannot be attributed exclusively to haploinsufficiency. Other events must also be considered, including the disruption of critical genes and position effects. A combination of several different investigative approaches (G-banding, FISH with different probes and SNP array techniques) was required to describe this CCR in full, suggesting that CCRs may be more frequent than initially thought. Additionally, we propose that a chain chromosome breakage mechanism may have occurred as a single rearrangement event resulting in this CCR. This study demonstrates the importance of applying different cytogenetic and molecular techniques to detect subtle rearrangements and to delineate the rearrangements at a more accurate level, providing a better understanding of the mechanisms involved in CCR formation and a better correlation with phenotype.
 ...
PMID:A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification. 2381 7

We report a new patient who presented with dysmorphic features and congenital heart disease. In addition, her brain magnetic resonance imaging revealed leukoencephalopathy, cavum septum pellucidum, perisylvian polymicrogyria, and focal occipital pachygyria. Her regular karyotype showed 46,XX add 6 (p25) due to malsegregation of a maternal balanced translocation 46,XX,t(6;7)(p25;q33) while the array-comparative genomic hybridization identified a 3.307 Mb heterozygous deletion at 6p25.3-p25.2 and 23.95 Mb duplication at 7q33-q36.3. A previous patient with the same developmental brain malformations and leukoencephalopathy with 6p25 deletion including TUBB2A and TUBB2B genes had been reported. Thus, confirming that these specific developmental brain malformations are due to TUBB2A and TUBB2B haploinsufficiency. Our report is the first to present the developmental brain malformations associated with whole gene deletions of the two tubulin genes and provide further insights into the etiology of developmental brain malformations and white matter abnormalities associated with 6p25 deletions.
 ...
PMID:Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion. 3163 35