Dr. Jeff Milunsky, MD
Geneticist | Clinical Genetics (M.D.)
850 Harrison Ave Yacc5 Boston MA, 02118About
Dr. Jeff Milunsky practices Genetic Medicine in Boston, MA. As a geneticist, Dr. Milunsky performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Milunsky carries out studies, tests, and counsels patients with genetic diseases.
Provider Details
Dr. Jeff Milunsky, MD's Expert Contributions
Is Duchenne's (DMD) genetic?
Yes. Sex-linked. The gene mutation carried by females. 50% of their male offspring will be affected, 50% of their girls will be carriers. AUBREY MILUNSKY, M.D., D.Sc., F.R.C.P., F.A.C.M.G., D.C.H. READ MORE
Expert Publications
Data provided by the National Library of Medicine- Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfalls.
- Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy.
- Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome.
- Kabuki syndrome in a Haitian patient.
- Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region.
- Highly polymorphic short tandem repeat analyses clarify complex molecular test results.
- An unstable dicentric Robertsonian translocation in a markedly discordant twin.
- Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
- Cerebro-oculo-facial-lymphatic syndrome.
- Connexin-30 deletion analysis in connexin-26 heterozygotes.
- Fragile X carrier screening and spinocerebellar ataxia in older males.
- Adult-onset neuronal ceroid lipofuscinosis type B in an African-American.
- Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridi
- Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.
- Constitutional partial 1q trisomy mosaicism and Wilms tumor.
Dr. Jeff Milunsky, MD's Practice location
Practice At 850 Harrison Ave Yacc5
850 Harrison Ave Yacc5 -Boston, MA 02118Get Direction
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