摘要:

AbstractWe report on a family with X‐linked mental retardation (XLMR) and severe spastic paraplegia. Appearance is normal but there is severe involvement of the lower limbs (affected relatives never walked), with minimal involvement of the upper limbs and unusual MRI findings including macrogyria, white matter hypoplasia, lack of myelination and a markedly increased paramagnetic signal suggestive of iron deposition. Linkage studies documented possible linkage, with no recombination, between the disease locus and DXS424. A 7‐point linkage analysis yielded a maximum LOD score of 1.9, (θ=0.00) for three loci spanning Xq22‐q25. The combination of the unusual clinical and MRI findings and the tentative localization to a region different than other XLMR syndromes with spastic paraplegia, provide good evidence that this is a new XLMR sy

ISSN:0148-7299    

DOI:10.1002/ajmg.1320430172

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe restudied a family with X‐linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop. Stature, OFC, testicular volume, high resolution chromosome and fragile X studies, and plasma amino acids were all normal. Their manifestations closely resemble those of a large family with XLMR originally reported by Allan et al. [1944]and restudied by Stevenson et al. [1990]. This condition has been termed the Allan‐Herndon‐Dudley syndrome (AHDS). As AHDS has been mapped to Xq21, mapping studies were undertaken to determine if this family maps to the same location. These studies demonstrate tight linkage to Xq21, with a maximum lod score of 2.88 obtained with probe pX65H7 (DXS72). Multipoint analysis located the mutant gene quite close to pX65H7 (multipoint Z=4.14), slightly more proximal in Xq21 than was suggested by the data from the original AHDS family. It appears likely that this family is the second reported family with

ISSN:0148-7299    

DOI:10.1002/ajmg.1320430173

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractIn 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X‐linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non‐progressive. Additional findings in 2 males were congenital “club‐feet” and generalized seizures. The affected males were 13‐62 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X‐linked recessive inheritance distinguishes this syndrome from previously described inherited hered

ISSN:0148-7299    

DOI:10.1002/ajmg.1320430174

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractNeuropsychological studies were performed in 82 subjects of 12 families with X‐linked, fragile X negative, mental retardation (MR). Subjects were examined with Wechsler tests (WPPSI, WISC‐R or WAIS, according to their capabilities), Progressive Matrices, Bender or Santucci and memory tests.Physical findings in 5 families were characterised by micro‐orchidism (MiO), microcephaly (MiC), short stature (SS) and non‐specific facial features (XMR±MiO±MiC±SS). The 11 males with MR had a very low IQ, ranging from 13 to 37 (mean 21.2±8.8); this did not constitute a profile definition. Among the females of their families, 4 had subnormal or borderline IQ, respectively 74, 66, 38 and 37.A second group (2 families) had MiO but with normal stature and occipito‐frontal circumference (XMR±MiO). The 7 males with MR had an IQ ranging from 24 to 43 (mean 35.1±5.8) and showed frequently better results in performance than in verbal subtests. In these 2 families, 5 females had subnormal or borderline IQ, respectively 77, 72, 71, 70 and 20.In the 5 families of the third group, XMR±MaO(fraX‐), several affected males had macro‐orchidism (MaO) and facial changes similar to those of fragile X syndrome. IQ variability, also in the same family (e.g.: the 3 brothers of family 3 had, respectively, an IQ of 26, 28 and 68; the 2 brothers of family 1 had an IQ of 13 and 63) and different profiles. Two females were severely affected (IQ 16 and 24), while another 4 had an IQ, respectively,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320430175

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320430101

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY