De novo 13q paracentric inversion in a boy with cleft palate and mental retardation
β Scribed by V. M. Riccardi; G. P. Holmquist
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 583 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0340-6717
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π SIMILAR VOLUMES
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
A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at =0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval