Interstitial deletion of chromosome 7p detected antenatally
| Autor: | W L Whitehouse, L Hill, K Marks, R G Chitham |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 1985 |
| Předmět: |
Chromosome 7 (human)
Chromosomes Human 6-12 and X Male Fetus Prenatal diagnosis Karyotype Anatomy Biology medicine.disease Craniosynostosis Hypospadias Karyotyping Prenatal Diagnosis Genetics medicine otorhinolaryngologic diseases Humans Adenomyosis medicine.symptom Chromosome Deletion Genetics (clinical) Low-set ears Research Article |
| Popis: | An interstitial deletion in chromosome 7(p13p15) detected in amniotic fluid cells is presented. After termination, the fetus was noted to have an asymmetrical skull, low set ears, a flattened nose, bifid thumbs and right big toe, pyloric adenomyosis, hypospadias, and simian creases. A brief comparison is made with previously reported cases involving deletions of 7p, including those associated with craniosynostosis. |
| Databáze: | OpenAIRE |
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