Publications by authors named "Bellil H"
Article Synopsis
- The article discusses a rare genetic abnormality involving deletions on chromosome 11, specifically between the 11q13 and 11q23 regions, which can lead to various clinical features including intellectual disabilities and malformations, though these do not consistently correlate with specific genetic patterns.* -
- The case study focuses on a 9-year-old boy exhibiting Sprengel's deformity, iris and chorioretinal coloboma, and mild motor development delay, identified to have a significant interstitial deletion on chromosome 11 through advanced genetic testing methods.* -
- The findings emphasize the variability in symptoms associated with 11q deletions and suggest that the observed deformities might not have a direct genetic link but rather could be
Spermatogenesis is a complex process regulated by a multitude of genes. The identification and characterization of male-germ-cell-specific genes is crucial to understanding the mechanisms through which the cells develop. The term "TEX gene" was coined by Wang et al.
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- Recent advancements in genome analysis, like array comparative genomic hybridization, have improved prenatal diagnosis of recurrent copy number variations (CNVs).
- Some CNVs, such as the duplication at the 2q13 locus, are linked to developmental and neuropsychiatric disorders but have low penetrance and can occur in healthy individuals.
- The study discusses an asymptomatic family with a 2q13 duplication, illustrating the complexities of genetic counseling for novel CNVs identified prenatally.
Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies of the short arm of chromosome 9 and is usually present in a mosaic state postnatally. Depending on the level of mosaicism, the phenotype ranges from mild developmental delay to multiple congenital anomalies with severe intellectual disability.
View Article and Find Full Text PDFPoisoning of livestock by ingestion of Retama raetam W, a common plant in arid countries of North Africa, is reviewed.
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