Clinical Correlates of Chromosome 15 Deletions and Maternal Disomy in Prader-Willi Syndrome

Prader-Willi syndrome (PWS) results from absence of the normally active paternally inherited genes on proximal 15q, due to del(15)(q11q13) or by maternal uniparental disomy (UPD) 15 in most cases. In addition to a higher frequency of hypopigmentation among deletion patients, minor phenotypic differences between deletion and UPD patients have recently been reported, including lower birth weight in the deletion group, shorter birth length in males with UPD, and shorter course of gavage feeding and later onset of hyperphagia in females with UPD. We previously reported that those with UPD had a less "typical" facial appearance, and they less often had skin picking, skill with puzzles, and high pain threshold. There were no children younger than 3.5 years of age in the UPD group, in contrast to several of them in the deletion group, suggesting a possible diagnostic delay in the UPD group. To assess this possibility and seek reasons for it, we reviewed the charts of 60 PWS patients with complete molecular testing. Mean age at diagnosis of patients with UPD was significantly higher than in the deletion group. Mean percentiles of birth weights and lengths of patients with UPD were significantly lower than in those with deletion. Mean duration of gestation, mean duration of gavage feeding, and mean age at onset of hyperphagia did not differ significantly between groups. Delay in the diagnosis of patients with UPD, which may influence the management and impact of the disorder, might be explained by a lower frequency of typical facial anomalies in this group.

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“…RFLP analysis was also performed using standard methodology, as previously described by Lai et al [1993].…”

Section: Laboratory Methodologymentioning

confidence: 99%

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

et al. 1997

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“…1), molecular genetic studies were performed on blood from the mother, father, and child. Maternal uniparental disomy of chromosome 15 was found using DNA probe MS620 (D15S586) from the 15q25 region (mother: 5.5 kb, 5.5 kb; father: 4.0 kb, 4.1 kb; and child: 5.5 kb, 5.5 kb; data not shown) following established protocols [Mascari et al, 1992;Lai et al, 1993]. Additional molecular genetic studies were performed at 7 years of age using 15q11q13 microsatellite DNA markers (D15S128, D15S122, GABRB3, GABRA5, and D15S219) and PCR amplification [Malcolm and Donlon, 1994].…”

Section: Clinical Reports Patient Amentioning

confidence: 99%

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?

et al. 1997

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“…2003), and is usually sporadic. A small interstitial deletion in the paternally derived chromosome 15 (15q11–q13) is found in approximately 70% of the cases (Lai et al. 1993).…”

Section: Introductionmentioning

confidence: 99%

Mathematical skills in Prader–Willi Syndrome

Bertella

Girelli

Grugni

et al. 2005

J intellect Disabil Res

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Clinical Correlates of Chromosome 15 Deletions and Maternal Disomy in Prader-Willi Syndrome

Cited by 14 publications

References 20 publications

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?

Mathematical skills in Prader–Willi Syndrome

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