December 2011
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44 Reads
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1 Citation
International Journal of Genetics and Molecular Biology
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December 2011
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44 Reads
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1 Citation
International Journal of Genetics and Molecular Biology
June 2011
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9,392 Reads
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2 Citations
International Journal of Genetics and Molecular Biology
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Opitz G/BBB syndrome is a genetic condition that affects several structures along the midline of the body. The most common features of this condition are wide-spaced eyes (hypertelorism) with structural defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (dysphagia). Some times in males, the urethra opening on the underside of the penis (hypospadias) is observed. Mild intellectual disability occurs in 30% approximately of patients with Opitz G/BBB syndrome (GBBBS), most likely caused by structural defects in the brain. About half of affected individuals also have cleft lip with or without a cleft palate as in this study. Some have cleft palate alone. Heart defects, imperforate anus, and brain defects such as absence of the corpus callosum. Facial abnormalities that may be seen in this disorder include a flat nasal bridge, thin upper lip, and low set ears. There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form of Opitz G/BBB syndrome is caused by a mutation in a specific gene, MID1, on the X chromosome. Autosomal dominant Opitz G/BBB syndrome is caused by a mutation in an as-yet unidentified gene on chromosome 22. Two chromosomal aberrations in this study were observed in two patients; chromosome duplication 47,XXY and translocation 46,XX t(3;4). However one patient with oral encephalocele presented normal karyotype 46,XY.
August 2010
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351 Reads
International Journal of Genetics and Molecular Biology
Two pediatric cases are reported in this study, a one year and five months old male patient with partial trisomy for the long arm of chromosome 9 due to chromosome segregation error in the father 46 XY, del (9q-)/46 XY dup (10q+), and a seven years old male patient with partial trisomy for the long arm of chromosome 7 due to chromosome segregation error in the mother 46 XX, ins (10; 7) (q21; q23q35) are described. The major abnormalities in both cases are reported and compared, where both syndromes have defects including central nervous system disorders as mental retardation, hypotonia, craniofacial anomalies, micrognatia, poor feeding and xyphoescoliosis.
March 2010
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118 Reads
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9 Citations
Pediatric and Developmental Pathology
Juvenile polyposis of infancy is a rare genetic disorder, involving multiple hamartomatous polyps of the gastrointestinal tract, which usually has a very aggressive clinical course and is often fatal. It is characterized by early onset (during the 1st months of life) and by diffuse juvenile polyposis with anemia, recurrent gastrointestinal bleeding, diarrhea, rectal prolapse, intussusception, protein-losing enteropathy, starvation, and malnutrition. There is a hypothesis that mutation of the tumor-suppressor genes BMPR1A and PTEN, located on the long arm of chromosome 10, is associated with the development of this disease. Medical treatment for this disorder is challenging and should be conservative whenever possible. We present the case of a 3-year-old girl with juvenile polyposis of infancy who eventually died from mesenteric artery thrombosis during surgical colectomy. Karyotype of the patient showed a paracentric inversion in 10q and a deletion in 10p. We will briefly comment on some genetic considerations of this disease.
... Chromosome is the system where DNA is contained, keeping its structure and integrity with the help of other molecules. It is found in the cell nucleus, and its function is to allow the transmission of genetic information to descendants randomly (1). Humans have approximately 30,000 genes distributed in 23 pairs of chromosomes, constituting a tola of 46 chromosomes, from which 23 correspond to each parent. ...
Reference:
Chromosomal disorders and Bioethics
December 2011
International Journal of Genetics and Molecular Biology
... Combined loss of PTEN and BMPR1A has a synergistic effect, resulting in juvenile polyposis of infancy (JPI), a very severe hereditary polyposis syndrome. It presents in the first 2 years of life and is characterized by recurrent gastrointestinal bleeding, diarrhea, protein-losing enteropathy and intestinal obstruction secondary to polyp formation (18)(19)(20). It often requires early surgery and significantly reduces the lifespan of affected children. ...
March 2010
Pediatric and Developmental Pathology