Profile

Margaret L P Adam, MD

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."

Margaret L.P. Adam, MD, is an attending physician at Seattle Childrens Hospital and an associate professor in the Department of Pediatrics at the University of Washington School of Medicine. Dr. Adam's clinical interests include the diagnosis and management of infants, children, and adolescents with a variety of genetic conditions.

Dr. Adam has a special interest in Mowat-Wilson syndrome, for which she has conducted clinical research in the past. She is currently involved as the primary geneticist in the Multidisciplinary Disorders of Sex Development (DSD) clinic at Seattle Children's Hospital and she recently joined the Multidisciplinary 22q11 Deletion syndrome clinic. She also provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Her current clinical research projects include working as a dysmorphologist on the Autoimmune Diseases in Pregnancy Project with the Organization of Teratology Information Specialists (OTIS) and on the Collaboration to Establish the Prevalence of Fetal Alcohol Spectrum Disorders in association with the University of California, San Diego.

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.

New Intervention Brings Hope
Adapting the home and school environment improves life for families raising kids with Fetal Alcohol Spectrum Disorders.... cont.

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Recommend Dr. Margaret Adam

Overview
Awards and Honors
Publications
Presentations

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 Name	Awarded By	Award Date
Medical Expert of the Month for November/December	Organization of Teratology Information Specialists	2011
John M. Optiz Young Investigator Award		2007
Recipient of Travel Award	Western Society for Pediatric Research Meeting	2004
Medical Scholars Grant	Stanford University School of Medicine	1995
Phi Beta Kappa		1992
Major Grant	Undergraduate 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

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

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

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

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 common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
American journal of human genetics , 2010 Nov 12: 87(5)631-42

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

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

Preaxial hallucal polydactyly as a marker for diabetic embryopathy.
Birth defects research. Part A, Clinical and molecular teratology , 2009 Jan: 85(1)13-9

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

Mowat-Wilson Syndrome
, 1993

Kabuki Syndrome
, 1993

Presentations

Presentations Title	Event	Location	Date
Evolving knowledge of the teratogenicity of medications in human pregnancy	Obstetrics/Gynecology Grand Rounds, University of Washington	Seattle, WA	Jan. 11, 2012
Evolving knowledge of the teratogenicity of medications in human pregnancy	Alaska Native Tribal Health Consortium Grand Rounds	Anchorage, AK	Nov. 15, 2011
Evolving knowledge of the teratogenicity of medications in human pregnancy	Seattle Children's Hospital Pediatric Grand Rounds	Seattle, WA	July 28, 2011
Prenatal Diagnosis of Disorders of Sex Development	Disorders of Sex Development: Clinical, Ethical and Legal Perspectives	Seattle, WA	July 10, 2011
Clinical Utility of Array Comparative Genomic Hybridization (aCGH)	Genetic Providers Group Education Meeting	Kent, WA	Oct. 1, 2010
The 22q11 Deletion Syndrome	20th Cleft Lip and Palate Symposium	Atlanta, GA	Oct. 25, 2008
Homozygous Alpha-Thalassemia and Birth Defects in Humans: A Possible Hypoxic Mechanism	48th Annual Meeting of the Teratology Society	Monterey, CA	June 29, 2008
Oncogenes and Human Malformation Syndromes	38th Annual Environmental Society Meeting	Atlanta, GA	Oct. 24, 2007
Genetic Counseling and Prenatal Diagnosis for Families with Primary Immunodeficiency Syndromes	Approaches to the Diagnosis and Treatment of Primary Immune Deficiency Diseases	Emory University School of Medicine, Atlanta, GA	May 5, 2007
Cardinal Signs and Symptoms of Mowat-Wilson Syndrome	American College of Medical Genetics Meeting	Nashville, TN	March 25, 2007
On the Horizon: Array Comparative Genomic Hybridization	Georgia Birth Defects Surveillance Advisory Committee	Atlanta, GA	April 28, 2006
Approach to the Dysmorphic Newborn	Neonatology 2006	Atlanta, GA	March 31, 2006
The Genetics of Facial Clefting	Georgia Speech-Language-Hearing Association	Atlanta, GA	March 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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Margaret L P Adam, MD

Making a Difference

It's a Boy! Or Is It a Girl?

New Intervention Brings Hope

Recommendations

Overview

Awards and Honors

Publications

Presentations

Primary Office

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