Idiopathic infantile hypercalcaemia--a continuing enigma.

Martin, Neil D.; Snodgrass, G. J. A. I.; Cohen, R. D.

doi:10.1136/adc.59.7.605

Cited by 151 publications

(93 citation statements)

References 21 publications

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“…They include t(12;15) (pll;pll) by Fryns et aI. (1982); dup(15)(ql2) by Miles and Michalski (1983); t(9;17) by Martin et al (1984); del(4)(q33) by Jefferson et aI. (1986); del (15)(qllql3) by Kaplan et al (1987); and del(6)(q22.2q23) by Bzduch and Lukacova (1989).…”

Section: Discussionmentioning

confidence: 99%

Satellited chromosome 9 in a boy with multiple anomalies

et al. 1989

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SummaryA 5-year-old boy with multiple congenital anomalies showed a satellited long-arm chromosome 9, a previously undescribed abnormality. Various banding analyses of his chromosomes and those of his parents indicated that a reciprocal translocation, t(9 ;22)(q34.3 ;ql 1.21), occurred in the father's gonad, and one of the translocation chromosomes was then transmitted to the patient. Thus, the patient's karyotype was interpreted as 46,XY,-9,+psudic(9),t(9;22)(q34.3;qll.21). He showed several features similar to those of the Williams syndrome. The gene(s)responsible for the syndrome thus could be at either 9q34.3-qter or 22pter-qll.2. Southern blot analysis of the patient's DNA indicated the presence of two copies of the argininosuccinate synthetase gene which had been assigned to 9q34.1-qter. In view of the fact that the 9q34.3-qter segment is monosomic in the patient, the gene locus was deduced to be at 9q34.1-q34.2 segment.

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Section: Discussionmentioning

confidence: 99%

Satellited chromosome 9 in a boy with multiple anomalies

et al. 1989

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Section: Introductionmentioning

confidence: 99%

“…Williams Syndrome (WS) is a genetic disorder caused by a microdeletion of a sequence of genes on chromosome 7. Prevalence is between 1 in 7,500 and 1 in 20,000 (Martin, Snodgrass, & Cohen, 1984;Stromme, Bjornstad, & Ramstad, 2002).The deletion typically results in dysmorphic facial features, short stature and a mild to moderate intellectual imapairment (Bellugi, Lichtenberger, Jones, Lai, & St, 2000;Mervis et al, 2000). Additionally, individuals with WS exhibit outgoing, gregarious social behaviour, as if they have little or no social anxiety (Doyle, Bellugi, Korenberg, & Graham, 2004;Jones et al, 2000).…”

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confidence: 99%

Beyond Behaviour: Is Social Anxiety Low in Williams Syndrome?

Dodd

Schniering

Porter

2009

J Autism Dev Disord

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Individuals with Williams syndrome (WS) exhibit striking social behaviour that may be indicative of abnormally low social anxiety. The present research aimed to determine whether social anxiety is unusually low in WS and to replicate previous findings of increased generalised anxiety in WS using both parent and self report.Fifteen individuals with WS aged 12-28 years completed the Spence Children's Anxiety Scale (SCAS) and the Children's Automatic Thoughts Scale (CATS). Their responses were compared to clinically anxious and community comparison groups matched on mental age. The findings suggest that WS is not associated with unusually low social anxiety but that generalised anxiety symptoms and physical threat thoughts are increased in WS, relative to typically developing children. Williams Syndrome (WS) is a genetic disorder caused by a microdeletion of a sequence of genes on chromosome 7. Prevalence is between 1 in 7,500 and 1 in 20,000 (Martin, Snodgrass, & Cohen, 1984;Stromme, Bjornstad, & Ramstad, 2002).The deletion typically results in dysmorphic facial features, short stature and a mild to moderate intellectual imapairment (Bellugi, Lichtenberger, Jones, Lai, & St, 2000;Mervis et al., 2000). Additionally, individuals with WS exhibit outgoing, gregarious social behaviour, as if they have little or no social anxiety (Doyle, Bellugi, Korenberg, & Graham, 2004;Jones et al., 2000). In contrast to this social behaviour, there is emerging evidence that individuals with WS may be at increased risk for Generalised Anxiety Disorder (GAD) and Specific Phobia (Dykens, 2003; Leyfer, WoodruffBorden, Klein-Tasman, Fricke, & Mervis, 2006). These findings may indicate that the WS deletion specifically increases risk for certain anxiety disorders whilst decreasing risk for Social Phobia. However, it is also possible that individuals with WS do experience social anxiety but that their outgoing social behaviour masks these thoughts and feelings of social anxiety. Due to the limitations of previous research, it is not currently possible to differentiate between these two hypotheses. The present study utilises a multi-method, multi-informant approach to examine the evidence that social anxiety is unusually low in WS.Although a number of early studies reported that WS is associated with increased anxiety (Davies, Udwin, & Howlin, 1998;Einfeld, Tonge, & Florio, 1997;Sarimski, 1997), there has been little examination of specific subtypes of anxiety (e.g. (2006) found evidence of high rates of GAD (12%) and Specific Phobia (54%) in children with WS, relative to rates reported for typically developing children, and also reported that 1.7% of their sample met criteria for Social Phobia. Similar prevalence rates for GAD and Specific Phobia were found by Dodd & Porter (in press) for a sample of children and adults with WS, however, no cases of Social Phobia were found. By comparing these prevalence rates to those reported for typically developing children (for example, Bolton et al., 2006;Costello et al., 1996), it is clear ...

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“…Cases occur sporadically and affect both genders equally. Prevalence is estimated to be around 1 in 20,000 (Martin, Snodgrass, & Cohen, 1984); however, a higher rate of 1 in 7,500 has been reported (Stromme, Bjornstad, & Ramstad, 2002). Although there is some phenotypic heterogeneity (Mervis, Morris, Bertrand, & Robinson, 1999;Porter & Coltheart, 2005), the deletion typically results in dysmorphic facial features and short stature, medical problems such as supravalvular aortic stenosis, a mild to moderate intellectual delay, and high levels of anxiety and attention problems.…”

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confidence: 99%