Career Milestones Of A Medical Geneticist (Volume I: 1978-2019) (Paperback) (ISBN-13: 9798334381162)

The straightforward format of this book makes it an easy read. It is written in a
straightforward and clear style, making it accessible to a broad audience of students and
those in academics interested in the career milestones of a medical geneticist dedicated
chronologically into two volumes of published scientific works over the past 45 years.

The areas covered in this book include the research, management and treatment of
Prader-Willi syndrome (PWS), the most common recognized disorder with morbid obesity as well
as its causes and diagnosis with current understanding of genetics, natural history and imprinting
of this rare obesity-related genetic disorder utilizing advances in chromosome and genetic
laboratory technology and observations, applied clinical trials and pharmacogenetics testing. This book includes early studies on sister chromosome exchanges, folds and breakage with an
overview of telomeric associations and chromosome anomalies, telomerase activity and
telomere integrity studies with effects of age on rare bone tumors.

It discusses the clinical and cytogenetic survey with results of institutionalized and non-institutionalized subjects with mental retardation or intellectual disabilities, behavioral problems and autism focusing on fragile-X syndrome and other chromosome defects, some common and others rare, including the initial observations, establishment and characterization of Burnside-Butler syndrome, the most commonly recognized genetic cause in patients presenting for genetics service with neurodevelopmental problems, utilizing existing and new molecular genomic technologies such
as chromosomal microarrays, gene expression and next-generation sequencing.

In this book, different phases and management of rare genetic disorders and causes such as
paternal source of the chromosome 15q deletion initially reported by Butler and Palmer in 1983
in PWS and uniparental disomy 15, first identified and reported by Nicholls, Butler and colleagues
in 1989 led to the concept of genomic imprinting in humans along with description of uniparental
disomy 15 subclasses, chromosome 15q deletion subtypes and imprinting defects seen in both
Prader-Willi and Angelman syndromes and their clinical differences. These and other genetic
disorders and chromosome syndromes are described and illustrated throughout. Cohorts of
patients with rare genetic disorders that were characterized, described and studied over the
years including microdeletion syndromes, rare gene variants characterized with and without
autism including fragile X syndrome are explained in detail in this book. Other syndromes with or
without obesity are described and identification with location of genes causing not only obesity,
but autism, infertility, alcoholism, intellectual disabilities, schizophrenia, bipolar disorder, and
cardiac defects are discussed and overlapping disturbed genetic pathways, biological processes
and molecular functions are illustrated in several individual reports and studies stimulating
additional research.

This is a unique book in terms of depth and complexity of reported findings and studies with a
wide range of experiences learned as represented by a selection of contributions from peer-
reviewed research, genetic and clinical studies. Dr. Butler has learned as an academic physician-
scientist, researcher and educator with a 45-year career evaluating over 40,000 patients who
presented for clinical genetics services requiring complex genetic testing, diagnosis, counseling,
treatment and management.

Author: Merlin G. Butler
ISBN-13: 9798334381162
Publisher: Independently Published
Language: English
Published: 07/28/2024
Pages: 554
Format: Paperback
Weight: 3.89lbs
Size: 11.00h x 8.50w x 1.44d