Clinical and molecular characteristics of 27 children with Prader-Willi syndrome in South China / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 573-578, 2016.
Article
Dans Zh
| WPRIM
| ID: wpr-489757
Responsable en Bibliothèque :
WPRO
ABSTRACT
Objective To understand the clinical and molecular characteristics of children with Prader-Willi syndrome (PWS) in South China.Methods Clinical and molecular data of children diagnosed as PWS by Methylation-specific PCR(MS-PCR) and/or Array Comparative Genomic Hybridization(Array-CGH)in Guangzhou Women and Children's Medical Center from November 2012 to November 2014 were analyzed.Results A total of 27 children diagnosed as PWS were included in this study,including 21 cases diagnosed by Array Comparative Genomic Hybridization (Array-CGH) and 13 cases diagnosed by methylation-specific PC R (MS-PCR).Within the 27 cases,13 cases were male(48.1%) and 14 cases were female(51.9%).The age on diagnosis was from 16 days to 16 years old.MS-PCR was performed in 13 cases,7 cases of them also performed Array-CGH,both of them showed a 174 bp fragment from the methylated allele and a 100 bp fragment from the unmethylated allele.Array-CGH analysis was performed in 21 cases,paternal deletion in 18 cases and mean interstitial deletions measure (5.48 ± 0.51) Mb in size,paternal duplication in 2 cases,loss of heterozygosity measure approximately 79.58 Mb in 1 case.Eighteen simple chromosome deletion cases were divided into 6 Del Ⅰ and 12 Del Ⅱ according to the location of Array-CGH and query the database to DECIPHER(Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources).The major phenotype included central hypotonia and feeding difficulty in all cases (100.0%),hypogonadism in 25 cases (92.6%),weak crying in 22 cases(81.5%),and hypopigmentation in 22 cases(81.5%).Fourteen cases beyond 1 year old had varied degrees of development disability and behavioral and psychiatric disturbance:speech articulation defects in 13 cases(92.9%),hyperphagia and weight gain too fast in 13 cases(92.9%) when they were between 1 to 6 years old[(2.80 ± 1.32) years old],and obesity in 12 cases (85.7%).Conclusions For PWS children in South China,there is no statistically significant difference in the clinical manifestation between Del Ⅰ and Del Ⅱ.PWS children in South China have typical clinical characteristics,which can be used as a further screening indication to implement molecular diagnostics.
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WPRIM
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Zh
Texte intégral:
Chinese Journal of Applied Clinical Pediatrics
Année:
2016
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Article