Wilfredo Torres-Martinez

Indiana University-Purdue University Indianapolis, Indianapolis, Indiana, United States

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Publications (12)40.97 Total impact

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    ABSTRACT: Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver. These findings were first noted by prenatal ultrasound and may assist in prenatally diagnosing additional cases of Carpenter syndrome. © 2014 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 01/2014; · 2.30 Impact Factor
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    ABSTRACT: In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 12/2013; · 2.30 Impact Factor
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    ABSTRACT: We delineated and analyzed directly oriented paralogous low-copy repeats (DP-LCRs) in the most recent version of the human haploid reference genome. The computationally defined DP-LCRs were cross-referenced with our Chromosomal Microarray Analysis (CMA) database of 25,144 patients subjected to genome-wide assays. This computationally guided approach to the empirically-derived large dataset allowed us to investigate genomic rearrangement relative frequencies and identify new loci for recurrent nonallelic homologous recombination (NAHR)-mediated copy-number variants (CNVs). The most commonly observed recurrent CNVs were NPHP1 duplications (233), CHRNA7 duplications (175), and 22q11.21 deletions (DiGeorge/Velocardiofacial syndrome, 166). In the ~ 25% of CMA cases for which parental studies were available, we identified 190 de novo recurrent CNVs. In this group, the most frequently observed events were deletions of 22q11.21 (48), 16p11.2 (autism, 34), and 7q11.23 (Williams-Beuren syndrome, 11). Several features of DP-LCRs, including length, distance between NAHR substrate elements, DNA sequence identity (fraction matching), GC content, and concentration of the homologous recombination (HR) hot spot motif 5'-CCNCCNTNNCCNC-3' correlate with the frequencies of the recurrent CNVs events. Four novel adjacent DP-LCR-flanked and NAHR-prone regions, involving 2q12.2q13 were elucidated in association with novel genomic disorders. Our study quantitates genome architectural features responsible for NAHR mediated genomic instability and further elucidates the role of NAHR in human disease.
    Genome Research 05/2013; · 14.40 Impact Factor
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    ABSTRACT: Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and Prader-Willi (PW)-like features. Only a minority of cases in the literature have been characterized with high resolution techniques, making genotype-phenotype correlations difficult. We report 12 individuals with overlapping, 200-kb to 16.4-Mb interstitial deletions within 6q15q22.33 characterized by microarray-based comparative genomic hybridization to better correlate deletion regions with specific phenotypes. Four individuals have a PW-like phenotype, though only two have deletion of SIM1, the candidate gene for this feature. Therefore, other genes on 6q may contribute to this phenotype including multiple genes on 6q16 and our newly proposed candidate, the transcription cofactor gene VGLL2 on 6q22.2. Two individuals present with movement disorders as a major feature, and ataxia is present in a third. The 4.1-Mb 6q22.1q22.2 critical region for movement disorders includes the cerebellar-expressed candidate gene GOPC. Observed brain malformations include thick corpus callosum in two subjects, cerebellar vermal hypoplasia in two subjects, and cerebellar atrophy in one subject. Seven subjects' deletions overlap a ~250-kb cluster of four genes on 6q22.1 including MARCKS, HDAC2, and HS3ST5, which are involved in neural development. Two subjects have only this gene cluster deleted, and one deletion was apparently de novo, suggesting at least one of these genes plays an important role in development. Although the phenotypes associated with 6q deletions can vary, using overlapping deletions to delineate critical regions improves genotype-phenotype correlation for interstitial 6q deletions.
    Neurogenetics 01/2012; 13(1):31-47. · 3.58 Impact Factor
  • Paul R Mark, Wilfredo Torres-Martinez, Ralph S Lachman, David D Weaver
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    ABSTRACT: Heterozygous sequence variants of the COL2A1 gene cause a phenotypic spectrum collectively called type II collagenopathies. Here, we describe a COL2A1 sequence variant, c.2957C>T, p.Pro986Leu in the triple helical domain, which is a Y-position substitution in exon 41 of the repeating triplet sequence Gly-X-Y of the proα1(II) chain. This sequence variant was associated with a mild spondyloepiphyseal dysplasia phenotype in three individuals in a three-generation family. On clinical examination at the age of 19 months, the proband had a flat face, bifid uvula, and a protruding abdomen. Radiographically, he had rhizomelia, mesomelia, and ovoid-shaped vertebrae. He also had absent mineralization of the epiphyses, the os pubis, tali, and calcanei. His mother had myopia, mild lumbar lordosis, and mild coxa vara. She had a detached retina repaired at age 24 years. The maternal grandmother had cataracts but has had no kyphoscoliosis or lordosis. All three had disproportionate short stature. None had arthritis or hearing loss. The sequence variant in this family is the only reported Y-position proline substitution in the triple helical domain (Gly-X-Y) of the proα1(II) coded by the COL2A1 gene.
    American Journal of Medical Genetics Part A 01/2011; 155A(1):174-9. · 2.30 Impact Factor
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    ABSTRACT: Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2-year-old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a approximately 520.7 kb microdeletion on 16p13.3 involving CREBBP, ADCY9, and SRL genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for ADCY9 and SRL.
    American Journal of Medical Genetics Part A 02/2010; 152A(2):479-83. · 2.30 Impact Factor
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    ABSTRACT: We report on a 3-year-old girl with bilateral eyelid colobomas, bulbous nose, blepharophimosis, blepharoptosis, sensorineural hearing loss, atrial septal defect, psychomotor retardation, and growth delay. Cytogenetic analysis showed additional material of unknown origin on the short arm of chromosome 8. Whole chromosome paint FISH identified the additional material to originate from chromosome 6. Subtelomeric metaphase FISH analysis detected a bright signal pattern for the 6p subtelomere probe on the derivative 8 as well as two short arm signals for the normal chromosomes 6. Interphase FISH with the 6p subtelomere probe demonstrated four 6p signals. Interestingly, metaphase FISH with a probe for the 8p subtelomere region demonstrated a signal for 8p just proximal to the translocated material. Comparative genomic hybridization studies confirmed tetrasomy of the 6p subtelomere region from 6p25.1 --> 6p25.3. Thus our patient represents the first reported case of "pure" partial tetrasomy 6p, meaning the tetrasomy was not associated with a significant deletion of chromosome arm 8p. We compare here this case with previously reported cases of partial trisomy 6p and the resulting phenotypes.
    American Journal of Medical Genetics Part A 09/2007; 143A(17):1978-83. · 2.30 Impact Factor
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    ABSTRACT: The limb-body wall complex (LBWC) is characterized by abdominal wall and limb defects, exstrophy of the cloaca (EC) by lack of closure of the lower abdominal wall and lack of cloacal septation, and the urorectal septum malformation sequence (URSMS) by absent perineal and anal openings, ambiguous genitalia, colonic, and renal anomalies. We report here on three fetuses whom have overlapping features of these disorders. Also we have reviewed the literature for cases with overlapping features of two or three of the above conditions. From the description of the cases reported on here and those in the literature, we propose that the overlap of features found among LBWC, EC, and URSMS represent a continuous spectrum of abnormalities, rather than three separate conditions. As such, we suggest that all three conditions may share a common etiology or pathogenetic mechanism.
    American Journal of Medical Genetics Part A 06/2007; 143A(10):1025-31. · 2.30 Impact Factor
  • Melissa A Dempsey, Wilfredo Torres-Martinez, Laurence E Walsh
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    ABSTRACT: Sakoda complex consists of sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate. Associated abnormalities include optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation and epilepsy. The etiology remains unknown. We describe two patients with anomalies consistent with the Sakoda complex including the cardinal features of sphenoethmoidal encephalomeningocele and cleft palate. The first patient also has right microphthalmia, optic nerve hypoplasia, diffuse pachygyria, asymmetric ventricles, atrial septal defect, hemivertebrae, and renal abnormalities. The second patient has right microphthalmia, absence of the right hemisphere, and a right bifid thumb. The features of Sakoda complex present in these patients may also overlap with frontonasal dysplasia and morning glory syndrome suggesting shared pathogenic relationships. We propose that the primary malformation of the Sakoda complex is probably genetic. The right hemispheric defect in Patient 2 suggests that at least some cases of Sakoda complex may also be associated with vascular disruption. Thus, more than one pathogenetic process contributes to the phenotypic spectrum of Sakoda complex.
    American Journal of Medical Genetics Part A 03/2007; 143(4):370-6. · 2.30 Impact Factor
  • Lisa J Cushman, Wilfredo Torres-Martinez, David D Weaver
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    ABSTRACT: Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified. Herein we report a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delays. Interestingly, she also has features that have not yet been reported, such as preauricular pits and tags, broad depressions at the lateral aspects of the eyes, and an abnormal left lower eyelid. In addition to demonstrating a pattern of anomalies consistent with JMS, this patient has several unique features. This phenotype supports the involvement of the branchial arches in the embryologic basis of this condition.
    Birth Defects Research Part A Clinical and Molecular Teratology 10/2005; 73(9):638-41. · 2.27 Impact Factor
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    ABSTRACT: Partial monosomy of the q2 region of chromosome 15 has been infrequently reported. Moreover, interstitial deletions involving 15q22-q24 have been described in only nine patients to date. The phenotype of these reported individuals is subject to the extent of the deletion but typically includes altered muscle tone and significant developmental delays. In addition, eye abnormalities, such as strabismus, microphthalmia, or colobomas, ear abnormalities including cleft earlobe and preauricular tags, and urogenital defects are common features. Congenital heart defects, diaphragmatic hernia, abnormalities of the central nervous system, and skeletal anomalies have been reported but appear to be less frequent clinical manifestations. In this report, we describe three new patients with interstitial deletions involving 15q24, two with cryptic deletions identified by fluorescence in situ hybridization (FISH) with a probe for the PML gene and one with a cytogenetically visible deletion of 15q22.3-q24. The clinical presentation of these individuals is similar to those previously described and includes global developmental delays, hypotonia, and genital abnormalities in the males. The identification of these three cases demonstrates that the above clinical features are associated with a new cytogenetic deletion syndrome. Furthermore, we suggest that FISH analysis with a probe for the PML gene be performed in patients with these physical findings.
    American Journal of Medical Genetics Part A 09/2005; 137(1):65-71. · 2.30 Impact Factor
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    ABSTRACT: The partial trisomy 2q phenotype has been well described in the literature, primarily through cases of unbalanced translocations. While these reports contributed to the initial delineation of the phenotype, reports of de novo duplications are valuable in that they exist in the absence of an accompanying monosomy. We describe a 16-month-old female with a de novo duplication of 2q from bands q33.1 to q35. The clinical findings of this patient include a congenital heart defect, dysmorphic facial features, hypotonia, feeding difficulties, and developmental delay. In contrast to most reported individuals with trisomy 2q, this patient demonstrates only mild developmental delays. We compare our findings with other case reports of partial trisomy 2q.
    American Journal of Medical Genetics Part A 05/2005; 134A(1):80-3. · 2.30 Impact Factor

Publication Stats

70 Citations
40.97 Total Impact Points

Institutions

  • 2005–2013
    • Indiana University-Purdue University Indianapolis
      • Department of Medical and Molecular Genetics
      Indianapolis, Indiana, United States
    • University of Cincinnati
      • Analytical and Diagnostic Sciences
      Cincinnati, OH, United States
  • 2010
    • Bozeman Deaconess Hospital
      Bozeman, Montana, United States