𝔖 Bobbio Scriptorium
✦   LIBER   ✦

X-linked mental retardation associated with bilateral clasp thumb anomaly

✍ Scribed by Gareis, Frank J. ;Mason, Jon D. ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
292 KB
Volume
17
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a family in which mental retardation is associated with a bilateral clasp-thumb anomaly (absent extensor pollicis brevis tendons). Males over 3 generations were documented to have this combination of findings and pedigree analysis strongly suggests X-linked inheritance. We are not aware of previous reports of X-linked mental retardation (XLMR) associated with this anomaly. There was no evidence of a fragile X in the 2 brothers who were studied for this abnormality.

πŸ“œ SIMILAR VOLUMES

X-linked mental retardation associated w
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3
✍ 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

DNA studies of X-linked mental retardati
DNA studies of X-linked mental retardation associated with a fragile site at Xq27
✍ Davies, Kay E. ;Opitz, John M. ;Reynolds, James F. πŸ“‚ Article πŸ“… 1986 πŸ› John Wiley and Sons 🌐 English βš– 420 KB πŸ‘ 2 views

Linkage a n a l y s i s i n a f f e c t e d f a m i l i e s i n d i c a t e s a h i g h frequency of recombination around t h i s s i t e i n some f a m i l i e s , a l t h o u g h i n o t h e r s t h e g e n e t i c r e l a t i o n s h i p s a r e q u i t e d i f f e r e n t and c l o s e r l i n k