Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation
| Autor: | C Stoll, A Halb, J C Luckel, D Chognot |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Single flexion crease
medicine.medical_specialty Pediatrics Aneuploidy Trisomy Chromosome 9 Biology Facial Bones Atrial septal defects Facial dysmorphism Intellectual Disability Internal medicine Genetics medicine Humans Abnormalities Multiple cardiovascular diseases Growth Disorders Genetics (clinical) Mosaicism Infant medicine.disease Trisomy 9 mosaicism Endocrinology Female Chromosomes Human Pair 9 Multiple congenital malformations Research Article |
| Zdroj: | Journal of Medical Genetics. 30:433-435 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.30.5.433 |
| Popis: | Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism. |
| Databáze: | OpenAIRE |
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