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1.  Interstitial deletion of distal 13q associated with Hirschsprung's disease. 
Journal of Medical Genetics  1989;26(2):100-104.
Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.
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PMCID: PMC1015558  PMID: 2918536
2.  Aetiology of mild mental retardation. 
Archives of Disease in Childhood  1988;63(9):1032-1038.
A clinical and family study was carried out in 169 children attending schools for the mildly mentally retarded in Southampton to assess the prevalence of recognised medical risk factors; 71 children (42%) had such risk factors. These were prenatal in 22, perinatal in 41, and postnatal in eight. Risk factors of possible, but less certain, significance were found in a further 63 children (37%). In 86 families (51%) there was a history of serious educational problems in both parents. The prevalence of both types of risk factor was higher in the children whose parents had no educational problems. There were, however, 25 children (15%) whose parents had no history of educational problems and in whom medical risk factors were either absent or minimal.
PMCID: PMC1779131  PMID: 3178264
4.  Chromosome abnormalities in pupils attending ESN/M schools. 
Archives of Disease in Childhood  1986;61(3):223-226.
One hundred and sixty six children attending educationally subnormal/mild (ESN/M) schools were karyotyped as part of a project investigating the aetiology of mild mental retardation. Nine had significant chromosome abnormalities. Five of six children identified during the survey had no dysmorphic features--47,XXY (two), 48,XXYY, 46,XX 15q-, and 46,XX,t(X;19). One dysmorphic boy had a balanced translocation--46,XY,t(3;15). Three were already known--47,XX+21 (two) and 46,XY, 14q+. We suggest that routine karyotyping of children with mild mental retardation be considered.
PMCID: PMC1777694  PMID: 2421647

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