Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile‐X syndrome

Butler, Merlin G.; Singh, Dharmdeo N.

doi:10.1111/j.1365-2788.1993.tb00580.x

Cited by 12 publications

(8 citation statements)

References 19 publications

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“…For example, Butler and Singh [9] reported 2.0% fragile X positive in his cases, while in our study it was 3.8%. Nevertheless, our results indicate that the diagnostic contribution of the fragile X screening could be considered equally important as conventional chromosome banding techniques for the detection of structural chromosome abnormalities.…”

Section: Discussioncontrasting

confidence: 67%

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Cytogenetic Findings in Mentally Retarded Iranian Patients

Nasiri¹,

Mahjoubi²,

Manouchehry³

et al. 2012

Balkan Journal of Medical Genetics

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We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood samples using conventional staining methods. Chromosome anomalies were identified in 205 of the patients (23.6%). The majority were Down’s syndrome cases (n = 138). In 33 males, a positive fragile X anomaly was found. The remainder (n = 34) had other chromosomal abnormalities including structural chromosome aberrations (n = 23), marker chromosomes with an unknown origin (n = 3), sex chromosome aneuploidy (n = 6) and trisomy 18 (n = 2). The contribution of chromosome aberrations to the cause of MR in this group of patients is discussed.

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Section: Discussioncontrasting

confidence: 67%

“…However, the percentage of chromosome aberrations found in patients with non specific mental retardation was 2.2% [8]. A study done by Butler and Singh [9] in America showed that 39 out of 201 (6.6%) institutionalized MR patients had abnormal chromosome with Down’s syndrome noted in 31 of the patients.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic Findings in Mentally Retarded Iranian Patients

Nasiri¹,

Mahjoubi²,

Manouchehry³

et al. 2012

Balkan Journal of Medical Genetics

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Section: Methodsmentioning

confidence: 99%

“…A cytogenetic and clinical survey of 236 mentally retarded males (39 with and 197 without the fra(X) syndrome or other recognizable cause of their retardation) was undertaken recently including a comprehensive assessment of anthropometric variables, and significant differences were reported for 18 measurements (weight, height, 7 linear, 2 breadth, 5 craniofacial, 1 skinfold and testicular volume) (Butler et al 1991a, Butler & Singh 1993. A subset of these individuals was used in the current study to compare anthropometric and craniofacial profile patterns between mentally retarded males with and without the fra(X) syndrome and, in addition, affected males with either high or low fra(X) chromosome expression.…”

Section: Methodsmentioning

confidence: 99%

Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome

et al. 1993

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Anthropometric and craniofacial profile patterns indicating the percent difference from the overall mean were developed on 34 physical parameters with 31 white, mentally retarded males (23 adults and 8 children) with the fra(X) syndrome matched for age with 31 white, mentally retarded males without a known cause of their retardation. The fra(X) syndrome males consistently showed larger dimensions for all anthropometric variables, with significant differences for height, sitting height, arm span, hand length, middle finger length, hand breadth, foot length, foot breadth, and testicular volume. A craniofacial pattern did emerge between the two groups of mentally retarded males, but with overlap of several variables. Significant differences were noted for head circumference, head breadth, lower face height, bizygomatic diameter, inner canthal distance, ear length and ear width, with the fra(X) syndrome males having larger head dimensions (head circumference, head breadth, head length, face height and lower face height), but smaller measurements for minimal frontal diameter, bizygomatic diameter, bigonial diameter, and inner canthal distance. Several significant correlations were found with the variables for both mentally retarded males with and without the fra(X) syndrome. In a combined anthropometric and craniofacial profile of 19 variables comparing 26 white fra(X) syndrome males (13 with high expression (>30%) and 13 with low expression (< 30%), but matched for age), a relatively flat profile was observed with no significant differences for any of the variables. Generally, fra(X) syndrome males with increased fragile X chromosome expression have larger amplifications of the CGG trinucleotide repeat of the FMR-1 gene. No physical differences were detectable in our study between fra(X) males with high expression and apparently larger amplifications of the CGG trinucleotide repeats compared with those patients with low expression. Our research illustrates the use of anthropometry in identifying differences between mentally retarded males with or without the fra(X) syndrome and offers a comprehensive approach for screening males for the fra(X) syndrome and selecting those individuals for cytogenetic and/or molecular genetic testing. 1983, Meaney & Farrer 1986, Meaney & Butler 1989, Butler et al. 1991a. One of these conditions is the fragile X (fra(X)) or Martin-Bell syndrome, the most common familial cause of mental retardation. This syndrome is characterized by mental retardation, macroorchidism, large or prominent ears, a long narrow face, hyperflexibility and a characteristic chromosome fragile site at Xq27.3 (Turner et al. 1986, Hagerman 1987, Butler 1988. The incidence of the fragile X syndrome is approximately one in 1000-2500 males (Herbst & Miller 1980, Turner et al. 1986, Webb et al. 1986). Unstable DNA sequence representing large increases in the number of CGG repeats have recently been located at the fragile site and characterization of the gene (FMR-1) implicated in the fra(X) syndrome is under...

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“…There is a slight male preponderance (1.3–1) (5) and it is three times more prevalent in the Asian community (6). The causes of learning disability are numerous and can be attributed to either genetic or environmental factors affecting neurodevelopment [see Table 2 (7–9)]; 40–80% of children with a learning disability have no identifiable cause (7,10,11). The commonest identifiable cause is a chromosomal aberration particularly in children with severe learning difficulties although 19% of children with mild learning difficulties also do (12).…”

Section: Introductionmentioning

confidence: 99%