16q21 is critical for 16q deletion syndrome
| Autor: | K. Sameshima, Kenji Naritomi, S. Ohdo, Yoshinori Izumikawa, Kiyotake Hirayama, Noboru Shiroma |
|---|---|
| Rok vydání: | 1988 |
| Předmět: |
Chromosome Aberrations
High resolution Infant Karyotype Short neck Chromosome Disorders Anatomy Syndrome Biology medicine.disease Long arm Molecular biology Hydrocephalus Chromosome 16 Genetics medicine Humans Deletion syndrome Abnormalities Multiple Female Chromosome Deletion Genetics (clinical) Chromosomes Human Pair 16 Craniofacial dysmorphism |
| Zdroj: | Clinical genetics. 33(5) |
| ISSN: | 0009-9163 |
| Popis: | A 1-year-old girl with an interstitial deletion of the long arm of chromosome 16 is reported. She was characterized by a distinct craniofacial dysmorphism, meningoencephalocele, mild hydrocephalus, short neck, broad great toes and abnormally positioned toes. High resolution GTG and RBG banding analyses revealed a karyotype: 46,XX,del(16) (q13q22) de novo. An analysis of the smallest region of overlap revealed that the critical band region for 16q deletion syndrome is 16q21. |
| Databáze: | OpenAIRE |
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