ISSN:0148-7299    

DOI:10.1002/ajmg.1320380202

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

年代:1991

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380203

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe have identified 39 X‐linked conditions in which mental retardation seems to be the primary characteristic, although pathogenesis is unknown. These conditions can be subdivided into syndromal and non‐syndromal, depending on the existence of a recognizable pattern of minor anomalies and/or malformations, or lack thereof. Seventeen genes have been regionally mapped onto the X chromosome. However, in 14 instances the data were derived from a single family and most lod scores were less than

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380204

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

年代:1991

数据来源: WILEY

摘要:

AbstractPhotographs of normal and abnormal relatives with X‐linked mental retardation (XLMR) and clinical data are combined in a Macintosh II computer system to provide an objective and versatile means of evaluating developmental abnormalities. The system includes a flatbed scanner for the entry of photographs and text, additional memory to enhance resolution of photographs, and several programs which facilitate searches for keywords. The primary advantages of the system include an easy interaction between descriptive words and photographs, and rapid comparison of whole faces and specific traits from many individuals. Information within families and between disorders can easily be compared in coded or uncoded fashion. Data from the 34 currently described syndromes emerging from the category of “non‐specific XLMR” are being used to develop and test this approach. Neither standard photographs nor most computerized diagnostic systems permit this flexibility. Ultimately, this approach will provide a valuable diagnostic and teach

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380205

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on a 4 generation family of individuals with an X‐linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy‐Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden‐Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a “presenile dementia.” At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X‐linked mental retardati

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380206

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe describe a family with two half‐brothers affected with severe mental retardation. The phenotype in the affected individuals is characterized by apparent acromegaly, profound mental retardation, and hyperactivity. The mother has analogous but less severe facial anomalies and mild mental impairment. Screening for fra(X) (q) was negative in peripheral lymphocytes using methotrexate for fra(X) enhancement. The clinical findings in our patients are similar to those described by Fryns et al. [1986] in two patients with acquired lesions of the central nervous system. CT investigations in one of our patients showed areas of hyperdensity in the pontine region and a small subarachnoid cyst. The pedigree suggests X‐linked inheritance. The association of apparent acromegaly, CNS anomalies, megalotestes, and mental retardation in this family supports the hypothesis that a distinct syndrome may exist with phenotype anomalies more severe than those characteristic for the Martin‐Bell syndrome but without frag

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380207

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

年代:1991

数据来源: WILEY

摘要:

AbstractIn a Danish county (the island of Funen) cytogenetic screening for fragile X [fra(X)] of 32 autistic individuals aged 0–23 years showed a prevalence of 2/20 among boys and 0/12 among girls. In both cases additional fra(X) positive relatives were found. In 3 patients other chromosome aberrations were demonstrated and in one female Rett syndrome was diagnosed, initially suspected from observations of her behavior on videotapes. The presence of an underlying cause of autism in 6/32, of the patient group encourages an active search for a specific diagnosis among autistic males and females. Future screening of autistic individuals should include 1) fra(X) search also in females, 2) search for other chromosomal disorders, and 3) observation of behavior, in order to diagnose, i.e., Rett syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380208

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe studied 10 members of a 4 generation Missouri kindred with a dominant mental retardation syndrome with increasing severity in males. The 21 year‐old propositus presented with severe mental retardation, microcephaly, asymmetric face, exotropia, hypogonadism, joint hypermobility, rocker bottom feet, and 10 low digital arches. Two brothers and a male cousin had similar features. The mother, sister, niece, maternal aunt, female cousin, and grandmother were examined and each had 8 to 10 low digital arches. Five of the women had exotropia and one had pes cavus feet. Chromosome analysis for fragile X in multiple relatives was normal.To determine the likelihood that this was an X‐linked syndrome, DNA from relatives was hybridized to probes which detect 13 different loci spanning the X‐chromosome. A peak LOD score of 2.78 at θ equal to 0.0 was calculated for the syndrome locus andDXYS1(pDP34). The more distal Xq loci showed increasing recombination with the syndrome locus. These results are consistent with location for this syndrome nearXq21.31, the chromosomal locus fo

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380209

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

年代:1991

数据来源: WILEY

摘要:

AbstractLinkage analysis was carried out in a large four‐generation German family segregating for non‐specific X‐linked mental retardation. Affected males have moderate intellectual handicap. Speech delay, deviant behaviour, and hyperactivity have also been reported. Head circumference and testicular volumes are normal. Cytogenetic analysis failed to show evidence for fragile site or structural abnormality of the X chromosome. None of the obligatory carriers shows any clinical symptoms. Close linkage without recombination (lod scores 1.74 to 2.05) has been found between the disease locus (MRX1) and the polymorphic DNA loci DXS7 (Xp11.4‐p11.3), MAOA(Xp11.3–p11.23), DXS255(Xp11.22), and DXS159 (Xq12) suggesting that the gene responsible for the disease in this family maps in the pericentromeric region of the X chromosome. Linkage data obtained with the flanking marker loci OTC (Xp21.1) and DXS95 (Xq21.2–q21.3) also were compatible with this localization of the MRX1 gene. Close linkage to loci from Xp22, Xq22, Xq24–25, or Xq28 coul

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380210

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on 4 new cases of mildly retarded patients with marfanoid habitus and a characteristic constellation of minor anomalies. These patients, although sporadic, are likely to be affected by the same X‐linked type of mental retardation described by Lujan et al. (American Journal of Medical Genetics17:311–322,1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics28:267–274, 1987).The similar psychiatric history in 2 of our patients suggests that psychotic behaviour could be an additional manifestation, previously unrecognized in this condition.Late diagnosis of this relatively new syndrome in all our patients confirms the difficulty of the nosologic definition of mentally retarded individuals on clinical grounds alone. On the other hand, the Lujan‐Fryns syndrome appears to be more common than one would have

ISSN:0148-7299    

DOI:10.1002/ajmg.1320380211

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

年代:1991

数据来源: WILEY