Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
نویسندگان
چکیده
منابع مشابه
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
In 1972, Fried described a large Scottish family affected by X linked mental retardation (XLMR), hydrocephalus, and mild facial dysmorphism. The phenotype has considerable similarity to the MASA syndrome, which results from mutations of the L1CAM gene in Xq28, and this family has since been assumed to be an example of this condition. We have reinvestigated the family for linkage to X chromosome...
متن کاملX linked mental retardation: a family with a separate syndrome?
Four males with X linked mental retardation are described. Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the hair line, but no individual patient had all the features of the syndrome and none had macrocephaly. The facial appearance was distinctive but different from that seen in the FG syndrome. The cases a...
متن کاملLujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent for...
متن کاملNeuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
BACKGROUND AND PURPOSE X-linked α-thalassemia/mental retardation syndrome (Mendelian Inheritance in Man, 301040) is one of the X-linked intellectual disability syndromes caused by mutations of the ATRX gene and characterized by male predominance, central hypotonic facies, severe cognitive dysfunction, hemoglobin H disease (α-thalassemia), genital and skeletal abnormalities, and autistic and pec...
متن کاملX-linked mental retardation without physical abnormality: Renpenning's syndrome.
A number of families have been reported in which mental retardation appeared to be segregating as an X-linked recessive (Martin and Bell, 1943; Allan, Herndon, and Dudley, 1944; Losowsky, 1961; Renpenning et al, 1962; Dunn et al, 1962/1963; Neuhauser et al, 1969; Snyder and Robinson, 1969; Neuhauser and Zerbin-Rudin, 1970). We reported 5 such families (Turner, Turner, and Collins, 1971b) in whi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.7.535