X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.

Am J Med Genet 1992 Apr 15-May 1;43(1-2):475-8

Institutes of Neuropsichiatria Infantile, University of Cagliari, Italy.

Two brothers are reported who share mental retardation, conjunctival teleangectasias (mainly equatorial) and characteristic flat face with small mouth and thin prolabia. At the neuropsychological examination, the older brother at 14 years showed a full scale IQ of 40 (WISC), with verbal IQ 45 and performance IQ 44. The younger brother at 7 years showed a full scale IQ of 58 (WPPSI), with verbal IQ 67 and performance IQ 55. Chromosome studies showed a duplication Xp22-Xpter in both brothers and in the inactivated X of their mother. The anomaly was not present in a 3rd healthy brother and in other healthy relatives. The mother has normal intelligence and did not present any of the physical features of her affected sons.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.1320430171DOI Listing
July 1992
1 Read

Publication Analysis

Top Keywords

full scale
8
years full
8
verbal performance
8
duplication xp22-xpter
8
xp22-xpter brothers
8
brother years
8
physical features
8
mental retardation
8
mouth thin
4
thin prolabia
4
younger brother
4
scale wppsi
4
wppsi verbal
4
performance younger
4
older brother
4
performance chromosome
4
prolabia neuropsychological
4
scale wisc
4
wisc verbal
4
neuropsychological examination
4

References

(Supplied by CrossRef)

Arveiler et al.
Am J Med Genet 1988

Den Dunnen et al.
Am J Hum Genet 1989

Hanauer et al.
Am J Med Genet 1988

Neri et al.
Am J Med Genet 1991

Similar Publications