A comparison of the survival curves for de novo deletions and translocations did not show a statistically significant difference.11584045] [Full Text]" pmid="11584045"Shannon et al. (2001) concluded that the mortality rate for WHS was lower than previously reported and that there was a statistically significant relationship between deletion size and overall risk of death in de novo deletion cases. (2008) found that most patients had cessation of seizures in childhood.Of the 15 patients, 5 (33.3%) had heart lesions; 7 (47%) had orofacial clefts; 13 (87%) had a seizure disorder that tended to disappear with age; and all 15 had severe/profound developmental retardation.
Cases with large de novo deletions (proximal to and including p15.2) were more likely to have died than those with smaller deletions (odds ratio = 5.7; 95% confidence interval 1.7 to 19.9).Follow-up spanning 16 years was achieved in 4 of the cases. singlebörse ohne kosten Recklinghausen Thirteen cases were detected by cytogenetics (regular G-banding in 10; high-resolution banding in 3), while the remaining 2 required fluorescence in situ hybridization.3706410] [Full Text]" pmid="3706410"Lizcano-Gil et al. (1995) described a similar case of what was then called the 'Pitt-Rogers-Danks syndrome (PRDS)' or 'Pitt syndrome,' with the additional feature of optic atrophy.The father was 37 years old, prompting 7762580] [Full Text]" pmid="7762580"1996) described a patient thought to have Pitt syndrome in whom fluorescence in situ hybridization analysis using the D4S96 probe specific for the WHS region at 4p16.3 revealed microdeletion in 20 of 20 metaphase cells tested.
In 1 patient, radiographic examination showed dysplastic lesions in the proximal femurs and the vertebrae.These lesions were progressive and were assumed to be present in another patient because osteochondroma-like changes were mentioned in clinical reports. They also had white hair in early childhood, which contrasted with the hair color of their relatives.(1996) reported a family in which 3 males related as first cousins through carrier sisters were thought to have a novel X-linked mental retardation syndrome. Typical features included prenatal and severe postnatal growth retardation, blindness due to microphthalmia or optic atrophy, moderate to severe hearing loss, dysmorphic features, epilepsy, and severe mental retardation with absence of speech.They concluded that the 2 conditions result from the absence of similar, if not identical, genetic segments and proposed that the clinical differences observed between them are likely the result of allelic variation in the remaining homolog.
9489803] [Full Text]" pmid="9489803"Battaglia and Carey (1998) also argued that the Pitt-Rogers-Danks syndrome is essentially the same as Wolf-Hirschhorn syndrome, i.e., a 4p deletion syndrome. (1999) further defended the conclusion that WHS and PRDS represent clinical variation of a single disorder.They analyzed the patients at the molecular level, using a series of cosmids across a 4.5-Mb region of 4p16.3.They found that the molecular defects associated with the 2 syndromes show considerable overlap.A seizure had not occurred in 3 years in 18 (66%) patients, and the mean age of the last seizure in those who were seizure-free was 11.3 years.In addition, many parents commented that seizures were triggered by fever.