Holoprosencephaly
Mostrando 1-12 de 49 artigos, teses e dissertações.
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1. Molecular analysis of holoprosencephaly in South America
Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities and gene mutations. Here, we present a clinical and molecular analysis of 195 probands with HPE or microforms; approximately 72% of the patients were derived from the Latin American Collaborative Study of Congenital
Genet. Mol. Biol.. Publicado em: 2014
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2. Análise dos genes GHRH e GL12 em pacientes com deficiência de hormônio do crescimento congênita / GHRH and GLI2 genes analysis in patients with congenital growth hormone deficiency
Introduction: Alterations in genes related to GH secretion and pituitary organogenesis have been identified in patients with congenital GH deficiency (GHD). However, in only few cases of GHD the etiology has been established. GH-releasing hormone (GHRH) is an obvious candidate to explain isolated GH deficiency (IGHD). Previous reports in the literature did n
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 14/02/2012
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3. Holoprosencephaly: clinic e language / Holoprosencefalia: clínica e linguagem
Objective: To study oral and written language performance in patients without genetic mutations and with SHH or GLI2 mutations, presenting a peculiar phenotype named Holoprosencephaly-like (HPE-like, and compare these findings to those obtained with normal individuals. Model: Prospective analysis comparing oral and written language findings among 3 group
Publicado em: 2006
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4. Potenciais evocados auditivos de tronco encefálico na Holoprosencefali / Auditory brainstem response in holoprosencephaly
Objective: To evaluate and compare Auditory Brainstem Response (ABR) findings in patients with holoprosencephaly (HPE) and the HPE-like phenotype. Model: A prospective analysis comparing ABR results among three different groups: patients with classic HPE (GH), patients with HPE-like (GHL) and control group (GC), at a 5% significance level. Setting: Genet
Publicado em: 2006
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5. Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.
Four new cases of holoprosencephaly are described in fetuses exhibiting abnormal karyotypes with different distal and proximal rearrangements of the long arm of chromosome 7. Three of them showed terminal deletions of chromosome 7q, confirming the importance of the 7q36 region in holoprosencephaly. The karyotype of the fourth fetus showed an apparently balan
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6. Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.
We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chrom
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7. Holoprosencephaly in the west of Scotland 1975-1994.
Cases of holoprosencephaly which occurred in the west of Scotland over the past 20 years were ascertained from genetics, paediatric, and pathology department records. Fifty cases were identified of which 17 had an underlying cytogenetic abnormality. Of the remaining 33 cases, 26 were delivered after 28 weeks' gestation giving a birth prevalence of 1 in 26730
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8. What is the incidence of holoprosencephaly?
The incidence of holoprosencephaly with normal chromosomes has been estimated at between 1 in 16 000 and 1 in 53 394 live births. It has been found that during a 3-year period in the Bristol and Weston Health District there were six cases of holoprosencephaly, two of which were familial, and these cases are described. This represents an incidence of 1 in 520
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9. Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.
We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the associat
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10. Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.
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11. Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.
We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly.
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12. Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).
A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosence