We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv( )(q21.1q23). The child had findings in common with those seen in 18q-syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on
✦ LIBER ✦
18q− and 18q+ mosaicism in a mentally retarded boy
✍ Scribed by Ausems, Margreet G. E. M. ;Bhola, Shama L. ;Post-Blok, Cornelie A. ;Hennekam, Raoul C. M. ;de France, Henny F.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 350 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0148-7299
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