Positions

Overview

  • I am a pediatrician and geneticist at the University of Alabama at Birmingham. I did my fellowship in genetics at Baylor College of Medicine in Houston, Texas, after which I accepted a faculty position in the Department of Genetics at UAB in 1991. I am board certified both by the American Academy of Pediatrics and the American Board of Medical Genetics in Clinical and Medical Biochemical Genetics. My clinical practice is primarily as a general geneticist with expertise in dysmorphology, skeletal dysplasias, and patients with lysosomal storage disorders and inherited disorders of metabolism.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2017 Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesJournal of Inherited Metabolic Disease.  40:423-431. 2017
    2017 Clinical relevance of small copy-number variants in chromosomal microarray clinical testingGenetics in Medicine.  19:377-385. 2017
    2014 Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingEuropean Journal of Human Genetics.  22:79-87. 2014
    2014 Hajdu-Cheney syndrome: Phenotypical progression with de-novo NOTCH2 mutationClinical Dysmorphology.  23:88-94. 2014
    2014 The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: A proposed categorization systemGenetics in Medicine.  16:92-100. 2014
    2012 Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresHuman Mutation.  33:728-740. 2012
    2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders 2011
    2011 Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopiaPediatric Neurology.  45:274-278. 2011
    2010 A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skippingMitochondrion.  10:188-191. 2010
    2010 Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon GuidanceCell.  140:74-87. 2010
    2009 A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: A case report of two siblingsClinical Dysmorphology.  18:178-180. 2009
    2009 AsktheGeneticistSM: Five years of online experienceGenetics in Medicine.  11:294-304. 2009
    2009 Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21European Journal of Human Genetics.  17:454-466. 2009
    2008 Distal 22q11.2 microduplication encompassing the BCR gene 2008
    2008 Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities 2008
    2008 Constitutional H19 hypermethylation in a patient with isolated cardiac tumor 2008
    2008 Disruption of Neurexin 1 Associated with Autism Spectrum DisorderAmerican Journal of Human Genetics.  82:199-207. 2008
    2007 A previously unrecognized microdeletion syndrome on chromosome 22 Band q11.2 encompassing the BCR Gene 2007
    2006 Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2) 2006
    2006 Oculoauriculovertebral spectrum with 5p15.33-pter deletionClinical Dysmorphology.  15:153-154. 2006
    2005 Congenital oculomotor nerve synkinesis associated with fetal retinoid syndrome 2005
    2004 The fronto-ocular syndrome: Second mother-daughter case [1] 2004
    2004 Congenital Diaphragmatic Hernia: Is 15q26.1-26.2 a Candidate Locus? 2004
    2004 Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? 2004
    1999 A five-year experience with fragile X screening of high-risk gravid womenAmerican Journal of Obstetrics and Gynecology.  181:789-792. 1999
    1998 Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss 1998
    1997 Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles 1997
    1997 Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene 1997
    1997 Acrocallosal syndrome: A case reportJournal of Hand Surgery (American Volume).  22:492-494. 1997
    1997 Identification of a recombination event narrowing the Lafora disease gene regionJournal of Medical Genetics.  34:590-591. 1997
    1996 Terminal deletion of the long arm of chromosome 4 in a mother and two sons 1996
    1992 Genotypie confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening programPediatric Research.  31:217. 1992
    1990 DNA from guthrie spots for diagnosis of DMD by multiplex PCRBiochemical medicine and metabolic biology.  44:294-295. 1990

    Chapter

    Year Title Altmetric
    2013 Disorders of bone density, volume, and mineralization.  1-20. 2013

    Education And Training

  • San Juan City Hospital, Residency
  • Baylor College of Medicine, Postdoctoral Fellowship
  • Doctor of Medicine, University of Puerto Rico 1983
  • Mayaguez Medical Center, Internship 1984
  • San Juan City Hospital, Residency 1988
  • Baylor College of Medicine, Postdoctoral Fellowship 1991
  • Full Name

  • Maria Descartes