Article
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P
Abstract excerpt
X-linked hydrocephalus and the X-linked MASA syndrome (Mental retardation. Adducted thumbs, Shuffling gait and Aphasia) both have a variable clinical spectrum with great overlap. Data from DNA linkage analysis placed the locus for both conditions at Xq28. On clinical and molecular grounds it has...
Topics
- Abortion, Eugenic
- Adolescent
- Adult
- Aged
- Brain
- Child
- Child, Preschool
- Female
- Genetic Carrier Screening
- Genetic Counseling
- Genetic Linkage
- Humans
- Hydrocephalus
- Infant
- Infant, Newborn