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| Savastano,Clarice Pagani; El-Jaick,Kênia Balbi; Costa-Lima,Marcelo Aguiar; Abath,Cristina Maria Batista; Bianca,Sebastiano; Cavalcanti,Denise Pontes; Félix,Têmis Maria; Scarano,Gioacchino; Llerena Jr,Juan Clinton; Vargas,Fernando Regla; Moreira,Miguel Ângelo Martins; Seuánez,Hector N.; Castilla,Eduardo Enrique; Orioli,Iêda Maria. |
| 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 Malformations (ECLAMC), and 82% of the patients were newborns. Alobar HPE was the predominant brain defect in almost all facial defect categories, except for patients without oral cleft and median or lateral oral clefts. Ethmocephaly, cebocephaly, and premaxillary agenesis were primarily observed among female patients. Premaxillary agenesis occurred in six of the nine diabetic mothers. Recurrence of HPE... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Holoprosencephaly; ECLAMC; SHH; ZIC2; SIX3. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011 |
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| Vieira-Machado,Camilla Dutra; Tostes,Maluah; Alves,Gabrielle; Nazer,Julio; Martinez,Liliana; Wettig,Elisabeth; Pizarro Rivadeneira,Oscar; Diaz Caamaño,Marcela; Larenas Ascui,Jessica; Pavez,Pedro; Dutra,Maria da Graça; Castilla,Eduardo Enrique; Orioli,Ieda Maria. |
| Abstract The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to contribute to the characterization of the uniparental genetic structure of three Chilean regions. Newborns from seven hospitals in Independencia, Providencia, Santiago, Curicó, Cauquenes, Valdívia, and Puerto Montt communes, belonging to the Chilean regions of Santiago, Maule, and Los Lagos, were studied. The presence of Native American mitochondrial DNA (mtDNA) haplogroups and two markers present in the non-recombinant region of the Y chromosome, DYS199 and DYS287, indicative of Native American and African ancestry, respectively, was determined. A high Native American matrilineal contribution and... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Uniparental markers; Ancestry; MtDNA; Y-chromosome; ECLAMC. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400573 |
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