Genetic Counseling for Clinicians |
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17 pages matching Turner's syndrome in this book
Page 351
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Contents
1 Introduction to Genetics | 1 |
2 Basic Genetics | 13 |
3 Inheritance Patterns | 31 |
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acid acidosis affected child affected persons amniotic fluid amniotic fluid cells Amyloidosis anemia anomalies approximately arylsulfatase associated ataxia autosomal dominant autosomal dominant mode autosomal recessive autosomal recessive mode available Not available birth defects bones brachydactyly cancer carcinoma cataracts CHARACTERISTICS characterized cleft lip cleft palate condition cryptorchidism cultured amniotic fluid deafness Decreased activity DETECTION PRENATAL DIAGNOSIS diabetes disease disorders Down's syndrome dwarfism dysplasia enzyme females fetal follows an autosomal frequently gene genetic counseling growth deficiency hepatosplenomegaly hereditary heterozygote hypertelorism hypoplasia hypoplastic increased infection involve isolated defect lesions leukemia limbs males malformations malignant mental retardation metabolic microcephaly micrognathia mild mode of inheritance Multiple muscle nasal bridge normal occur onset palpebral fissures parents Pediatr pigmentation polydactyly pregnancy PRENATAL DIAGNOSIS recurrence renal tubular Renal tubular acidosis risk seen serum severe Short stature sickle cell skin specific symptoms syndactyly thalassemia tissue trisomy tumors urine Usually sporadic variable X-linked recessive