Further clinical delineation in trisomy 1q32 syndrome

A male newborn with multiple congenital abnormalities was studied. Clinically, he showed prominent forehead, facial dysmorphism, ear malformations, congenital heart defect and limb anomalies. The cytogenetic studies demonstrated a karyotype 46,XY, der(18) t(1;18)(q32;p11.3)pat with partial trisomy 1q32-qter and a monosomy 18p. The patient displayed clinical features of trisomy 1q but not of monosomy 18p. There are around 80 reports of trisomy 1q32. The purpose of this paper is to describe the first case of a translocation involving 1q and 18p chromosome breakpoints. Additional findings detected in the propositus permit us a further delineation of the trisomy 1q syndrome. � 2001 �ditions scientifiques et m�dicales Elsevier SAS

Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly)

Cantu syndrome (CS) is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance; autosomal recessive inheritance has been postulated. We report on a Mexican family with CS; the affected members are the 44-year-old father and his two children (a male and female), aged 14 and 4 years, respectively; each shows the classic characteristics, but the father and the brother also have a previously unreported feature, namely, a thick calvarium. This is the first reported instance of male-to-male transmission of CS. With the paternal age effect found in the reported sporadic cases and the segregation analysis [Robertson et al., 1999: Am J Med Genet 85:395-402], autosomal dominant inheritance is more likely than autosomal recessive inheritance. The cases of affected sibs reported by Cantu et al. [1982: Hum Genet 69:36-41] could be explained by parental gonadal mosaicism. (C) 2000 Wiley-Liss, Inc

Probable New Syndrome in a Mexican Family with Congenital Palmar Polyonychi and Postaxial Limb Defects

Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male-to-male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome. © 2003 Wiley-Liss, Inc

Prevalence of Listeria monocytogenes in raw milk in Guadalajara, Mexico

Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male-to-male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP-postaxial limb defect syndrome. " 2003 Wiley-Liss, Inc.",,,,,,,,,"http://hdl.handle.net/20.500.12104/43897","http://www.scopus.com/inward/record.url?eid=2-s2.0-1442308547&partnerID=40&md5=f881078ba82acbf9b8fb110853fd16e

Forecasting for smart grid applications with Higher Order Neural Networks

Allele frequency distribution and forensic parameters of the AmpFé.,"STR Identifiler kit was determined in nine Mexican Amerindian populations based on 1,040 unrelated individuals from the pre-Columbian region known as Mesoamerica. Hardy-Weinberg equilibrium was demonstrated for most of the short tandem repeats (STRs) in all nine populations. The power of discrimination and exclusion were higher than 0.99999 and 0.997942, respectively. In addition, a brief overview of the genetic relatedness and structure (F st?=?2.62 %; p?=?0.00000) between these populations is presented. " 2013 Springer-Verlag Berlin Heidelberg.",,,,,,"10.1007/s00414-013-0956-y",,,"http://hdl.handle.net/20.500.12104/41577","http://www.scopus.com/inward/record.url?eid=2-s2.0-84902463430&partnerID=40&md5=ce1830d717f3b58fc03af0275122d49

Forensic evaluation of the AmpFâ.,"STR Identifiler kit in nine Mexican native populations from the pre-Columbian Mesoamerican region

Allele frequency distribution and forensic parameters of the AmpFâ.,"STR Identifiler kit was determined in nine Mexican Amerindian populations based on 1,040 unrelated individuals from the pre-Columbian region known as Mesoamerica. Hardy-Weinberg equilibrium was demonstrated for most of the short tandem repeats (STRs) in all nine populations. The power of discrimination and exclusion were higher than 0.99999 and 0.997942, respectively. In addition, a brief overview of the genetic relatedness and structure (F st∈=∈2.62 %; p∈=∈0.00000) between these populations is presented. © 2013 Springer-Verlag Berlin Heidelberg

High prevalence of 5G allele in Amerindian tribes and Mestizos from Mexico at 4G/5G PAI-1 gene promoter polymorphism [2]

[No abstract available

White blood cell segmentation by circle detection using electromagnetism-like optimization

We studied six Y-linked short tandem repeats (Y-STRs) to describe the internal diversity of the Amerindian haplogroup Q-M3 in 129 males from eight Mexican populations. The low gene diversity in the Huichol tribe demonstrated the effects of genetic drift, attributable to geographic isolation and founder effect. The presence of two principal paternal lineages supported the historical and anthropometric records, which indicate that Huichols were formed by the fusion of two ancestral Mexican tribes. Moreover, genetic distances and close relationships of haplotypes between Huichols and Tarahumaras were in agreement with their linguistic affiliation. The high genetic diversity of the Purépechas and wide distribution of haplotypes along the constructed network-joining tree suggest that the present genetic composition was influenced by Purépecha dominance in western Mesoamerica. The Y-haplotypes shared between populations suggest that, among the Amerindian tribes studied herein, the paternal genetic pool of Nahuas could have contributed more importantly to the European-admixed population, the Mexican-Mestizos. " 2006 Elsevier Ireland Ltd. All rights reserved.",,,,,,"10.1016/j.legalmed.2006.02.003",,,"http://hdl.handle.net/20.500.12104/45767","http://www.scopus.com/inward/record.url?eid=2-s2.0-33746685060&partnerID=40&md5=3b06e42e8a11bfbe9b2cb9909c0bfb6

Y-linked haplotypes in Amerindian chromosomes from Mexican populations: Genetic evidence to the dual origin of the Huichol tribe

We studied six Y-linked short tandem repeats (Y-STRs) to describe the internal diversity of the Amerindian haplogroup Q-M3 in 129 males from eight Mexican populations. The low gene diversity in the Huichol tribe demonstrated the effects of genetic drift, attributable to geographic isolation and founder effect. The presence of two principal paternal lineages supported the historical and anthropometric records, which indicate that Huichols were formed by the fusion of two ancestral Mexican tribes. Moreover, genetic distances and close relationships of haplotypes between Huichols and Tarahumaras were in agreement with their linguistic affiliation. The high genetic diversity of the Purépechas and wide distribution of haplotypes along the constructed network-joining tree suggest that the present genetic composition was influenced by Purépecha dominance in western Mesoamerica. The Y-haplotypes shared between populations suggest that, among the Amerindian tribes studied herein, the paternal genetic pool of Nahuas could have contributed more importantly to the European-admixed population, the Mexican-Mestizos. © 2006 Elsevier Ireland Ltd. All rights reserved