Diagnostic Criteria for Prader-Willi Syndrome

Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients

“…12 * 4 The methylation pattern at ZNF127 for PW93 was found to be similar to that of a maternal UPD ( Fig.3a and 3b; lane 4, ratio = 5.85, and lane 3, ratio = 9.41). Two clinically atypical PWS patients, PW108 and PW66, shown cytogenetically to have ring 15 chromosomes with subtelomeric deletions of 15p and 15q, were also found to have an altered methylation at ZNF127(sec Fig.…”

“…3 Phenotypic features of PWS include infantile hypotonia, mild to moderate mental retardation, hyperphagia with subsequent obesity, hypogonadism, short stature, mild facial dysmorphism, and a characteristic behavior. 4 These clinically distinct rieuiobehavioraiydevelopinental disorders can be distinguished by the parental origin of the lSql 1 -ql3 loss. Lack of a maternal lSql 1 -ql3 contribution results in AS, most commonly by maternal deletion, 516 ' 7 -8 or rarely from paternal UPD.…”

“…patient with a ring 15 chromosome (PW108), has all die major characteristics of PWS including the neonatal hypotoma and poor feeding, obesity and hyperphagia, hypogonadixm, mental retardation and obsessive-compulsive behavior, but "^ lacks tbe cbaractenstic ocxs and *w* hyperpbaoa, obesay, mental retardation and hypogonadism are milder than described for rlstiirsl PWS. 4 Molecular studies DNA was isolated from peripheral blood leukocytes of patients, parents, and normal controls by standard methods. DNA digestion, Southern transfer, and probe hybridization were performed as previously described.…”

Phenotypic differences in African Americans with Prader-Willi syndrome

“…The five females (cases [1][2][3][4][5] and five males (cases 6-10) ranged in age from 9 months to 42 years of age. The diagnosis was made based on clinical history and physical examination, and was confirmed by diagnostic testing in all 10 patients (Table 1).…”

Sleep Disorders in Mentally Retarded Children

“…Кроме того, для данного заболевания характерны дисморфические про-явления в виде гипотелоризма, «готического» неба, нару-шения формы рта. Частым симптомом является повышен-ная дневная сонливость, которая, как и наличие апноэ во время сна, рассматривается в качестве диагностиче-ского критерия заболевания [35]. Проявления дневной сонливости нарастают по мере роста ребенка, увеличения массы тела.…”