Includes bibliographies and index.
|Statement||edited by Jorge J. Yunis.|
|Series||Chromosomes in biology and medicine|
|Contributions||Yunis, Jorge J.|
|LC Classifications||RB155 .N49|
|The Physical Object|
|Pagination||xi, 404 p. :|
|Number of Pages||404|
|LC Control Number||76043378|
New chromosomal and malformation syndromes. Daniel Bergsma; Harbor General Hospital Campus of the UCLA School of Medicine.; National Foundation. "Sponsored by the Harbor General Hospital Campus of the UCLA School of Medicine and the National Foundation-March of Dimes.". Birth defects original article series, v. 11, no. 5. Then we will describe eight new syndromes, four microdeletions (del 17q, del 3q29, del 15q24, del 2qq33) and four microduplications (dup 22q, dup 7q, dup 17p, duplication of MECP2). A better knowledge of these new recurrent chromosomal syndromes will allow to . This new edition of Chromosome Abnormalities and Genetic Counseling is a thoroughly updated ands richly-illustrated resource, combining basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. OUR BOOK: X & Y Chromosomal Variations. 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.
Chromosomal Abnormalities. Almost every cell in our body contains 23 pairs of chromosomes, for a total of 46 chromosomes. Half of the chromosomes come from our mother, and the other half come from our father. The first 22 pairs are called autosomes. Chromosome 1 is the largest and is over three times bigger than chromosome The 23rd pair of chromosomes are two special chromosomes, X and Y, that determine our sex. Females have a pair of X chromosomes (46, XX), whereas males have one X and one Y chromosomes (46, XY). Chromosomes are made of DNA, and genes are special units of chromosomal DNA. 15q microdeletion syndrome 16p deletion syndrome 17qq microdeletion syndrome 1q duplications 1q microdeletion syndrome 22q deletion syndrome 22q duplication syndrome 2q microdeletion syndrome 2q37 deletion syndrome 47 XXX syndr XYY syndrXXXXX syndrome Cat eye syndrome Chromosome 1, uniparental. The heterochromatin variants occurred more frequently in the reproductive failure group than in the controls (P = ). Regarding individual chromosomes, chromosome 9 variants were most frequently found in the study and control groups, and they also occurred .
The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease. Chromosomal disorders also occur when part of a chromosome becomes damaged. For example, if a tiny portion of chromosome 5 is missing, the individual will have cri du chat (cat’s cry) syndrome. These individuals have misshapen facial features, and the infant’s cry resembles a cat’s cry. Inherited disorders can arise when chromosomes behave abnormally during meiosis. Chromosome disorders can be divided into two categories: abnormalities in chromosome number and chromosomal structural rearrangements. Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 by: