Handbook of Chromosomal SyndromesIn the past, medical researchers and practicing clinicians have lacked a single, comprehensive resource on chromosome disorders, the cause of a wide variety of growth abnormalities and miscarriages. As new syndromes are being defined and known syndromes better described, patients with chromosomal abnormalities and their families are making greater demands on professionals for more extensive information. Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook of Chromosomal Syndromes is the most up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. This fully illustrated guide is ideal for clinicians to use as a ready reference and for treatment and counseling of families and expectant parents facing abnormal prenatal tests. For each syndrome, this easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: * A section devoted to the nomenclature of chromosome abnormalities * Pictorial material suitable to be shown to patient populations * Descriptions of the phenotype in tabular and text form for quick and easy reference * Ideograms for each entry * A list of key references Practicing clinicians-including primary care providers, pediatricians, and obstetricians-genetic counselors, researchers, and clinical and medical geneticists will find the Handbook of Chromosomal Syndromes to be an indispensable resource. |
Contents
Chromosome 1p partial monosomy | 4 |
Chromosome 1q partial monosomy | 10 |
Chromosome 2p partial trisomy | 16 |
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1995 John Wiley ABNORMALITIES Craniofacies ABNORMALITIES Growth adulthood Angelman syndrome anomalies arm of chromosome associated bilateral broad nasal bridge chromosome 15 cleft lip Clin CLINICAL COURSE clinodactyly Congenital heart defects Copyright cryptorchidism CYTOGENETICS Death in infancy deletion of chromosome developmental delay Diagn distal downward-slanting palpebral fissures dysmorphism epicanthal folds failure to thrive familial chromosomal rearrangements flat nasal bridge frontal bossing Fryns JP Genet Genitourinary Growth retardation Performance hypertelorism hypoplasia hypotonia infant Limbs long arm long philtrum low-set ears MAIN FEATURES malformed ears maternal mental retardation Microcephaly micrognathia molecular mosaicism mouth Note novo defect OCCASIONAL ABNORMALITIES palpebral fissures partial monosomy partial trisomy Patient at age permission of Wiley-Liss phenotype philtrum Prader-Willi syndrome Prenatal diagnosis prominent forehead psychomotor retardation ptosis qter reported Reprinted by permission ring chromosome short neck short nose short stature simian creases strabismus translocation trisomy 18 upward-slanting palpebral fissures Wiley & Sons