Содержание
6 LIST OF ABBREVIATIONS
7 INTRODUCTION
9 1. ETIOLOGY OF CHROMOSOMAL DISORDERS
15 1.1. CLASSIFICATION OF GENOMIC MUTATIONS
16 1.2. GENOMIC IMPRINTING
18 1.3. CLASSIFICATION OF CHROMOSOMAL MUTATIONS
21 1.4. CLASSIFICATION OF CHROMOSOMAL SYNDROMES
25 2. CLINICAL MANIFESTATIONS OF CHROMOSOMAL SYNDROMES
28 3. SEX CHROMOSOME SYNDROMES
28 3.1. KLINEFELTER SYNDROME (POLYSOMY X IN MALES)
29 3.2. SHERESHEVSKY-TURNER SYNDROME (MONOSOMY X)
32 3.3. TRIPLE X SYNDROME (POLYSOMY X IN FEMALES)
33 3.4. JACOBS SYNDROME (POLYSOMY Y)
34 3.5. FRAGILE X SYNDROME (MARTIN-BELL SYNDROME)
37 4. SYNDROMES CAUSED BY NUMERICAL ABERRATIONS OF AUTOSOMES
37 4.1. DOWN SYNDROME (TRISOMY 21)
40 4.2. PATAU SYNDROME (TRISOMY 13)
42 4.3. EDWARDS SYNDROME (TRISOMY 18)
45 4.4. WARKANY SYNDROME (MOSAIC TRISOMY 8)
47 4.5. CAT EYE SYNDROME (SCHMID-FRACCARO SYNDROME)
49 5. SYNDROMES CAUSED BY STRUCTURAL CHROMOSOMAL ABERRATIONS
49 5.1. CRI DU CHAT SYNDROME (MONOSOMY 5P)
50 5.2. WOLF–HIRSCHHORN SYNDROME (MONOSOMY 4P)
52 5.3. DISTAL 6P DUPLICATION SYNDROME
53 5.4. ALFI SYNDROME (MONOSOMY 9P)
55 5.5. RETHORÉ SYNDROME (TRISOMY 9P)
56 5.6. JACOBSEN SYNDROME (11Q DELETION SYNDROME)
58 5.7. ORBELI SYNDROME (13Q DELETION SYNDROME)
59 5.8. DE GROUCHY SYNDROME (18P DELETION SYNDROME)
61 5.9. RING CHROMOSOME 18 SYNDROME
63 6. MICRODELETION SYNDROMES
63 6.1. WILLIAMS-BEUREN SYNDROME
65 6.2. LANGER-GIEDION SYNDROME
66 6.3. BECKWITH-WIEDEMANN SYNDROME
68 6.4. SMITH-MAGENIS SYNDROME
70 6.5. MILLER-DIEKER LISSENCEPHALY SYNDROME
71 6.6. PRADER-WILLI SYNDROME
73 6.7. ANGELMAN SYNDROME
75 6.8. DIGEORGE SYNDROME (22Q11.2 DELETION SYNDROME)
78 7. METHODS FOR THE DIAGNOSIS OF CHROMOSOMAL DISORDERS
78 7.1. TISSUES USED FOR CLINICAL CHROMOSOME ANALYSES
79 7.2. CLINICAL INDICATIONS FOR CHROMOSOME ANALYSIS
80 7.3. CYTOGENETIC METHODS
82 7.4. FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
84 7.5. ARRAY COMPARATIVE GENOMIC HYBRIDIZATION (CGH)
86 7.5. NON-INVASIVE PRENATAL TESTING (NIPT)
88 8. PREVENTION OF CHROMOSOMAL DISORDERS
88 8.1. GENETIC COUNSELING
90 8.2. PREIMPLANTATION GENETIC TESTING (PGT)
92 8.3. PRENATAL TESTING FOR CHROMOSOMAL ABNORMALITIES
92 8.3.3. NON-INVASIVE METHODS
95 8.3.4. INVASIVE METHODS
98 SELF-ASSESSMENT QUESTIONS
100 CASE-BASED TASKS
103 MULTIPLE CHOICE QUESTIONS
106 ANSWERS
110 GLOSSARY
118 LITERATURE
%
Одностраничный режим чтения
Основной режим чтения
Тэги
Заметки
Отправить на печать
Видео
Доп.материалы
Содержание

Chromosomal disorders

Авторы: Мустафин Р. Н., Тимашева Я. Р., Бермишева М. А., ... Гималова Г. Ф.
Гилязова И. Р.
Хуснутдинова Э. К.
Вернуться на сайт
Открыть для копирования
В книге
На странице
Скачать выбранные
/ 121
1 121
Копирование: 60 (60) страниц | Печать: 24 (24) страницы
Ограничения на печать и копирование введены правообладателем. В скобках
указан остаток по каждому пункту с учетом того, что Вы уже использовали