Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1
| Autor: | M. Doussau De Bazignan, Taillard F, Desbois Jc, Catherine Turleau, J de Grouchy, N. Delepine |
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| Rok vydání: | 1986 |
| Předmět: |
Genetic Markers
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Skeletal anomalies Incontinentia pigmenti achromians Biology Internal medicine Genetics medicine Humans Metabolic disease Hemihypotrophy Genetics (clinical) Chromosomes Human Pair 15 Dysembryoma Infant Chorioretinal atrophy Karyotype medicine.disease Dermatology Chromosome Banding Endocrinology Karyotyping Female North african Chromosome Deletion Pigmentation Disorders |
| Zdroj: | Human Genetics. 74:185-187 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00282090 |
| Popis: | Hypomelanosis of Ito (incontinentia pigmenti achromians), a sacrococcygeal complex dysembryoma, seizures, severe cerebral lesions, mental retardation, chorioretinal atrophy, hemihypotrophy of the body, and skeletal anomalies are reported in a female infant of North African origin. Karyotype analysis revealed mosaicism for a microdeletion of the proximal region of 15q similar to that observed in Willi-Prader syndrome. The possibility of gene assignment of Ito's disease or that it may represent a nonspecific marker for mosaicism are discussed. |
| Databáze: | OpenAIRE |
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