Bossing
Mostrando 1-7 de 7 artigos, teses e dissertações.
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1. A Chapada Diamantina e a convivência com o Semi-Árido: Ameaça de desarticulação e dissolução de comunidades locais
Esta tese objetiva compreender o processo de ameaça de desarticulação e dissolução de comunidades do semi-árido da Chapada Diamantina. Foi feito estudo sistemático tomando como exemplo uma localidade denominada Cercado, situada no topo da Serra do Cigano, às margens da trilha cavaleira que dá acesso ao rio São Francisco. O estudo procura reconstrui
Publicado em: 2007
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2. A new interstitial deletion of 4q (q21.1::q22.1).
A unique case of de novo interstitial deletion of chromosome 4 is described involving loss of band q21. The male newborn had multiple abnormalities including frontal bossing, prominent occiput, low set ears, micrognathia, short sternum, short, broad hands and feet, agenesis of the corpus callosum, and cardiac defects. The phenotypic abnormalities are compare
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3. De novo duplication of the 7q11 leads to q22 region.
A patient with de novo partial trisomy for the 7q11 leads to 7q22 region as defined by methotrexate high resolution banding is described. he presented with delayed growth and development and characteristic physical features. These consisted of frontal bossing, prominent metopic suture, almond shaped eyes, enophthalmos, large, low set, posteriorly rotated ear
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4. MRI findings in a patient with partial monosomy 10p.
Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a
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5. Mosaic partial trisomy 17q2.
Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic
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6. Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).
We report on a new case of a single band duplication of the long arm of chromosome 7, dir dup (7)(q36----qter). The major manifestations are developmental delay (particularly speech), frontal bossing, macrocrania, and constant drooling. When compared with other cases involving a 7q duplication of various segments, our patient has a few minor anomalies. This
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7. Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.
Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilate