Alteraciones cromosómicas en niños referidos para estudio citogenética
| Autor: | Fermina López G, Vera Daher N, Lorena Tobella P., Cecilia Villaseca G, Samuel Salazar C, Silvia Castillo T, Patricia Sanz C |
|---|---|
| Jazyk: | Spanish; Castilian |
| Rok vydání: | 1994 |
| Předmět: |
Gynecology
medicine.medical_specialty Pathology anomalías business.industry humanos Cytogenetics cariotipo Turner's syndrome Short stature cromosomas Speech development Clinical diagnosis Pediatrics Perinatology and Child Health medicine Etiology In patient MULTIPLE MALFORMATIONS medicine.symptom business |
| Zdroj: | Revista chilena de pediatría v.65 n.4 1994 SciELO Chile CONICYT Chile instacron:CONICYT |
| Popis: | From year 1981 throughout 1 993 we have performed 1 473 caryotipes in patients aged 0 to 15 years. Referencediagnosis were Down's syndrome [30,8%), multiple malformations (19,1%), psychomoto r retardation (10,5%), Turner'ssyndrome 18%), abnormal sexual developmeni (7,6%), short stature (7,1%), speech development disturbances (2%) andmiscelaneous syndromes (14,9%). The efficiency of the investigation for chromosomal abnormalities varied accordinglyto clinical diagnosis: Down's syndrome (94.0%), multiple malformations (24.8%), psychomolor retardation (13.4%),Turner s syndrome [55.6%), abnormal sexual development (T 3.4%), speech disturbances [10.0%) and other syndromes[9.1 %). Chromosomal study allows confirmation of clinically suspected cases of chromosomal anomalies or -if normal- itpromotes ihe search of non chromosomal etiologies in apparently similar phenotypes, and it represents an importantcontribution to genetic counsel for affected families.(Keywords: Chromosomes, human, abnormalities, cytogenetics, kariotyping.) |
| Databáze: | OpenAIRE |
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