Abstract
Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.
Original language | English |
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Pages (from-to) | 101-104 |
Number of pages | 4 |
Journal | Annales de Genetique |
Volume | 35 |
Issue number | 2 |
Publication status | Published - 1992 |
Keywords
- Chromosome 10
- DiGeorge anomaly
- Multiple congenital malformations
- Partial deletion
ASJC Scopus subject areas
- Genetics