𝔖 Bobbio Scriptorium
✦   LIBER   ✦

De novo 13q paracentric inversion in a boy with cleft palate and mental retardation

✍ Scribed by V. M. Riccardi; G. P. Holmquist


Publisher
Springer
Year
1979
Tongue
English
Weight
583 KB
Volume
52
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Chromosome 18q paracentric inversion in
✍ Keppler-Noreuil, Kim M.; Carroll, Andrew J.; Finley, Sara C.; Descartes, Maria; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 32 KB πŸ‘ 2 views

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

X-linked mental retardation associated w
✍ Siderius, Liesbeth E.; Hamel, Ben C.J.; van Bokhoven, Hans; de Jager, Frank; van πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 46 KB πŸ‘ 1 views

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