Cytogenetic survey of a hospital for the mentally retarded

Sutherland, Grant R.; Murch, Ashleigh; Gardiner, Andrew J.; Carter, Rodney F.; Wiseman, Carole

doi:10.1007/bf00295286

Cited by 30 publications

(16 citation statements)

References 10 publications

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“…A predominance of males among institutionalized patients with DS has been observed previously [2, 11, 12, 13, 14, 15]. Explanations for this observation are either a higher hospitalization index of males or a higher mortality rate for females with DS [11, 12, 16].…”

Section: Discussionsupporting

confidence: 54%

Etiological Characterization of 512 Severely Mentally Retarded Institutionalized Patients in Havana

Lantigua-Cruz¹,

Mora²,

Arechaederra³

et al. 1999

Public Health Genomics

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Objective: To investigate etiological factors in severe mental retardation (SMR). Methods: An etiological study is presented of 512 SMR patients in five specialized institutions in Havana. Results: Prenatal, perinatal and postnatal causes were apparent in 58.0, 24.8 and 11.1% of the patients, respectively; infantile psychosis was determined in only 0.4%. The remaining 5.6% were classified as having SMR of undeterminable origin, i.e. patients with apparently normal pre-, peri- and postnatal histories who had neither dysmorphism nor affected first-degree relatives, and had a normal karyotype and metabolic screen. Among prenatal causes, genetic factors were the most frequent (82.8%), while environmental factors were apparent in only 5.3% of these cases. Of the cases with prenatal genetic etiology, chromosomal aberrations were present in 86.5% (Down syndrome 96.2% and 3.7% other chromosomal aberrations), monogenic disorders in 11.3% [neurocutaneous diseases (32.1%) and fragile X syndrome (25%) were the most frequent], and multifactorial disorders in 2.0%. Thirty-five patients (11.7%) presented multiple congenital anomalies of ‘prenatal unknown’ causes. The latter group may include unidentifiable chromosomal aberrations, uniparental disomy, de novo mutations and multifactorial or teratogenic factors. Conclusion: Accurate determination of the etiology of SMR is important not only for genetic counseling purposes, but also in identifying prenatal events which make infants more vulnerable to perinatal risk factors.

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Section: Discussionsupporting

confidence: 54%

Etiological Characterization of 512 Severely Mentally Retarded Institutionalized Patients in Havana

Lantigua-Cruz¹,

Mora²,

Arechaederra³

et al. 1999

Public Health Genomics

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“…In 24 cases permission for cytogenetic investigation was refused by the next of kin and 15 males with a known non-chromosomal cause of their mental handicap were excluded. The diagnoses in these patients were phenylketonuria (4), encephalopathy (4), meningitis (2) There have been many cytogenetic investigations of mentally handicapped populations and the results for males in four of these are summarised in tables 2 and 3 together with the results obtained from this study.…”

mentioning

confidence: 90%

Chromosome studies of males in an institution for the mentally handicapped.

English

Davison²,

Bhate³

et al. 1989

Journal of Medical Genetics

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SUMMARY Karyotypes were examined in 512 (91-9%) of 557 male patients in an institution for the mentally handicapped. A total of 110 (21-5%) had an abnormal karyotype: 65 (12-7%) with Down's syndrome, 30 (5-9%) with the fragile X syndrome, 13 (2-5%) with autosomal anomalies other than Down's syndrome (12 unbalanced, one balanced), and two (0.4%) with sex chromosome anomalies.The prevalence of chromosome anomalies in mentally handicapped male populations has been reported as 11-9% in north-east Scotland,1 with various levels up to 17X6% in Australia.2 These studies were before the importance of the fragile X syndrome in male mental handicap was established, and subsequent investigations have concentrated on the prevalence of fragile X males in mentally handicapped populations.3 This paper documents the results of a cytogenetic survey (G banded and fragile X) of the male population of Prudhoe Hospital, Northumberland.At the time of study there were 557 males resident at the institution. In 24 cases permission for cytogenetic investigation was refused by the next of kin and 15 males with a known non-chromosomal cause of their mental handicap were excluded. The diagnoses in these patients were phenylketonuria (4), encephalopathy (4), meningitis (2), surgical complications (2), birth trauma (1), hypoxaemia at birth (1), and haemolytic disease at birth (1). In a further six cases it was impossible to obtain a blood sample. In all, 512 (91.9%) of the patients were studied. MethodsVenous blood was cultured for 72 hours in RPMI 1640 medium (Gibco BRL) using standard laboratory techniques, and in Iscove's modified medium (Flow Laboratories) for fragile X induction. Ethidium bromide (final concentration 1 g/l) was used to

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“…The prevalence of chromosome anomalies in mentally retarded males in earlier studies before the fragile-X syndrome was recognized ranged from 11·9% (Speed et al 1976) to 17·6% (Sutherland et al 1976). Institutional screening of mentally retarded males for the fragile-X syndrome produced a range of 1·6% (Sutherland 1982) to 6·2% (Froster-Iskenius et al 1983).…”

Section: Introductionmentioning

confidence: 99%