國立高雄大學圖資館 |

Language: English

Back

Atlas of genetic diagnosis and couns...

Chen, Harold.

Atlas of genetic diagnosis and counseling

Record Type:	Electronic resources : Monograph/item
Title/Author:	Atlas of genetic diagnosis and counselingby Harold Chen.
Author:	Chen, Harold.
Published:	New York, NY :Springer New York :2017.
Description:	xxiii, 3080 p. :ill. (some col.), digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Genetic disordersAtlases.Diagnosis
Online resource:	http://dx.doi.org/10.1007/978-1-4939-2401-1
ISBN:	9781493924011$q(electronic bk.)

Atlas of genetic diagnosis and counseling
Chen, Harold.

Atlas of genetic diagnosis and counseling[electronic resource] /by Harold Chen. - 3rd ed. - New York, NY :Springer New York :2017. - xxiii, 3080 p. :ill. (some col.), digital ;24 cm.

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use. Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malformation syndrom es and better evaluate, counsel, and manage affected patients.

ISBN: 9781493924011$q(electronic bk.)

Standard No.: 10.1007/978-1-4939-2401-1doiSubjects--Topical Terms:

443019
Genetic disorders
--Diagnosis--Atlases.

LC Class. No.: RB155.6

Dewey Class. No.: 616.042

Atlas of genetic diagnosis and counseling
LDR:02845nmm a2200313 a 4500 001 517874
003 DE-He213
005 20180103091022.0
006 m d
007 cr nn 008maaau
008 180316s2017 nyu s 0 eng d
020 $a 9781493924011$q(electronic bk.)
020 $a 9781493924004$q(paper)
024 7 $a 10.1007/978-1-4939-2401-1 $2 doi
035 $a 978-1-4939-2401-1
040 $a GP $c GP
041 0 $a eng
050 4 $a RB155.6
072 7 $a MMF $2 bicssc
072 7 $a MED067000 $2 bisacsh
082 0 4 $a 616.042 $2 23
090 $a RB155.6 $b .C518 2017
100 1 $a Chen, Harold. $3 281154
245 1 0 $a Atlas of genetic diagnosis and counseling $h [electronic resource] / $c by Harold Chen.
250 $a 3rd ed.
260 $a New York, NY : $b Springer New York : $b Imprint: Springer, $c 2017.
300 $a xxiii, 3080 p. : $b ill. (some col.), digital ; $c 24 cm.
520 $a Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use. Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malformation syndrom es and better evaluate, counsel, and manage affected patients.
650 0 $a Genetic disorders $x Diagnosis $v Atlases. $3 443019
650 0 $a Genetic counseling $v Atlases. $3 443020
650 1 4 $a Medicine & Public Health. $3 273799
650 2 4 $a Pathology. $3 196513
650 2 4 $a Pediatrics. $3 274247
650 2 4 $a Neurology. $3 211583
710 2 $a SpringerLink (Online service) $3 273601
773 0 $t Springer eBooks
856 4 0 $u http://dx.doi.org/10.1007/978-1-4939-2401-1
950 $a Medicine (Springer-11650)