This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.
The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics.
From behavior and cognition to metabolism and response to chemicals and infectious organisms, this book explores the health impact of sex (being male or female, according to reproductive organs and chromosomes) and gender (one's sense of ...
This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists.
Barbara Migeon, from the renowned McKusick-Nathan Institute at Johns Hopkins, is a major figure in clinical genetics and is eminently qualified to write this book, and she writes clearly and effectively.
Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA (2016) Defects of B‐cell terminal differentiation in patients with type‐1 Kabuki ...
Over 1500 entries to literature (mostly English-language journal articles). Sources were Current contents, various genetics journals, Excerpta medica, and Index medicus. Entries arranged under sections titled Structural variations and anomalies,...
Periquito I, Carrusca C, Morgado J, Robalo B, Pereira C, de Lurdes Sampaio M. Familial Turner syndrome: The importance of information. J Pediatr Endocrinol Metab 29: 617–620, 2016. Perrin A, Douet-Guilbert N, Le Bris MJ, et al.
This comprehensive guide to X and Y chromosome aneuploidy is written in lay language for affected individuals and their families, providing an authoritative volume that explains X and Y chromosome variations in clear and accurate terms.
The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.
Daniel A, Athayde N, Ogle R, et al. ... Daniel A, Darmanian A, Peters G, Goodwin L, Hort JR. ... Daniel A, St Heaps L, Sylvester D, Diaz S, Peters G. Two mosaic terminal inverted duplications arising post-zygotically: evidence for ...