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Margaret L P Adam, MD

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Margaret L P Adam, MD

Genetics, Disorders of Sex Development

On staff since September 2009

Academic Title: Associate Professor

Research Center: Center for Clinical and Translational Research

"What we do in genetics is a lot of diagnostics, putting things together and being able to provide a family with an answer for why their child has specific issues. It's rewarding to provide those answers and give parents an idea of what they can expect in the future. These families want answers, and we work to provide those answers for them."

Making a Difference

  • It's a Boy! Or Is It a Girl?

    The Disorders of Sex Development program offers patients the most innovative treatments and guides families as they face some of the most difficult decisions imaginable.... cont.

Overview

Board Certification(s)
Pediatrics
Clinical Genetics (MD)
Medical/Professional School
Stanford University , Stanford
Residency
Pediatrics, Lucile Salter Packard Children's Hospital at Stanford, Palo Alto
Medical Biochemical Genetics, Stanford University - Dept of Medical Genetics, Stanford
Clinical Interests

Dysmorphology, Mowat-Wilson Syndrome, Teratology

Awards and Honors

Award NameAward DescriptionAwarded ByAward Date
Seattle Magazine Top Doctor - 2013Seattle Magazine 2013
Medical Expert of the Month for November/DecemberOrganization of Teratology Information Specialists 2011
John M. Optiz Young Investigator Award 2007
Recipient of Travel AwardWestern Society for Pediatric Research Meeting 2004
Medical Scholars GrantStanford University School of Medicine 1995
Phi Beta Kappa 1992
Major GrantUndergraduate Research Office, Stanford University, CA 1991

Publications

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.
American journal of medical genetics. Part A , 2011 Sep: 155A(9)2186-95
Evolving knowledge of the teratogenicity of medications in human pregnancy.
American journal of medical genetics. Part C, Seminars in medical genetics , 2011 Aug 15: 157(3)175-82
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
American journal of medical genetics. Part A , 2011 May: 155A(5)1196-201
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
American journal of medical genetics. Part A , 2011 May: 155A(5)1021-32
Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.
American journal of medical genetics. Part A , 2011 Apr: 155A(4)805-10
Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.
The Journal of molecular diagnostics : JMD , 2011 Jan: 13(1)108-12
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
American journal of human genetics , 2010 Nov 12: 87(5)631-42
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
American journal of human genetics , 2010 Nov 12: 87(5)618-30
A family with a 1.17 Mb deletion of 12q12: refining genotype-phenotype correlation.
American journal of medical genetics. Part A , 2010 Sep: 152A(9)2394-8
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
American journal of human genetics , 2010 May 14: 86(5)749-64
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Journal of medical genetics , 2010 May: 47(5)299-311
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
American journal of human genetics , 2010 Mar 12: 86(3)454-61
Mowat-Wilson syndrome with associated dysphagia.
American journal of medical genetics. Part A , 2010 Feb: 152A(2)484-5
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
Human molecular genetics , 2009 Aug 15: 18(16)2957-62
Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
Birth defects research. Part A, Clinical and molecular teratology , 2009 Jan: 85(1)13-9
Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
The Journal of pediatrics , 2009 Jan: 154(1)143-6
Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p.
Genetics in medicine : official journal of the American College of Medical Genetics , 2008 Aug: 10(8)599-611
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
American journal of medical genetics. Part A , 2008 Apr 1: 146(7)904-9
Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
American journal of medical genetics. Part A , 2008 Mar 1: 146A(5)543-7
Mowat-Wilson syndrome with craniosynostosis: a case report.
American journal of medical genetics. Part A , 2008 Jan 15: 146A(2)245-6
Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
American journal of medical genetics. Part A , 2007 Nov 15: 143A(22)2700-5
Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?
Birth defects research. Part A, Clinical and molecular teratology , 2007 Mar: 79(3)242-8
Clinical features and management issues in Mowat-Wilson syndrome.
American journal of medical genetics. Part A , 2006 Dec 15: 140(24)2730-41
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
American journal of medical genetics. Part A , 2006 Apr 15: 140(8)906-9
Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.
Prenatal diagnosis , 2005 Dec: 25(12)1088-96
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
American journal of medical genetics. Part A , 2005 Aug 30: 137(2)117-24
Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.
American journal of medical genetics. Part A , 2003 Nov 15: 123A(1)72-8
Kabuki Syndrome
, 1993
Mowat-Wilson Syndrome
, 1993

Presentations

Presentations TitleEventLocationDate
Evolving knowledge of the teratogenicity of medications in human pregnancyObstetrics/Gynecology Grand Rounds, University of WashingtonSeattle, WAJan. 11, 2012
Evolving knowledge of the teratogenicity of medications in human pregnancyAlaska Native Tribal Health Consortium Grand RoundsAnchorage, AKNov. 15, 2011
Evolving knowledge of the teratogenicity of medications in human pregnancySeattle Children's Hospital Pediatric Grand RoundsSeattle, WAJuly 28, 2011
Prenatal Diagnosis of Disorders of Sex DevelopmentDisorders of Sex Development: Clinical, Ethical and Legal PerspectivesSeattle, WAJuly 10, 2011
Clinical Utility of Array Comparative Genomic Hybridization (aCGH)Genetic Providers Group Education MeetingKent, WAOct. 1, 2010
The 22q11 Deletion Syndrome20th Cleft Lip and Palate SymposiumAtlanta, GAOct. 25, 2008
Homozygous Alpha-Thalassemia and Birth Defects in Humans: A Possible Hypoxic Mechanism48th Annual Meeting of the Teratology SocietyMonterey, CAJune 29, 2008
Oncogenes and Human Malformation Syndromes38th Annual Environmental Society MeetingAtlanta, GAOct. 24, 2007
Genetic Counseling and Prenatal Diagnosis for Families with Primary Immunodeficiency SyndromesApproaches to the Diagnosis and Treatment of Primary Immune Deficiency DiseasesEmory University School of Medicine, Atlanta, GAMay 5, 2007
Cardinal Signs and Symptoms of Mowat-Wilson SyndromeAmerican College of Medical Genetics MeetingNashville, TNMarch 25, 2007
On the Horizon: Array Comparative Genomic HybridizationGeorgia Birth Defects Surveillance Advisory CommitteeAtlanta, GAApril 28, 2006
Approach to the Dysmorphic NewbornNeonatology 2006Atlanta, GAMarch 31, 2006
The Genetics of Facial CleftingGeorgia Speech-Language-Hearing AssociationAtlanta, GAMarch 25, 2006

Primary Office

Seattle Children's
OC.9.850 - Medical Genetics
4800 Sand Point Way NE
Seattle, WA 98105
206-987-2056

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