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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 16, No. 3, 2010, pp. 172-174
Bioline Code: hg10037
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 16, No. 3, 2010, pp. 172-174

 en Prader-Willi syndrome: Methylation study or fluorescence in situ hybridization first?
Hamzi, Khalil; Itto, Afaf Ben.; Nassereddine, Sanaa & Nadifi, Sellama


Prader-Willi syndrome (PWS) is neurogenetic disorder involving the imprinting mechanism at 15q11-13 region. We report a 4-year-old girl who was referred to our laboratory to be investigated for clinical obesity, mental deficiency and respiratory problems. The patient was born for non-consanguineous and healthy biological parents. After normal pregnancy, the patient was delivered by cesarean section at full term, with a birth weight of 2500 g, and the height and head circumference were unknown. In neonatal stage, she presented severe hypotonia with feeding problems. Her developmental progress was delayed. She walked and developed speech at the age of 3 years. Since the age of 3 years, she presented severe dental problems. Methylation study had confirmed the diagnosis, and for detecting etiology, fluorescence in situ hybridization using probes for small nuclear ribonucleoprotein polypeptide N (SNRPN), which map inside the chromosomal region 15q11-15q13, was necessary to confirm the 15q11-15q13 deletion of paternal chromosome 15, which is the predominant genetic defect in PWS. In conclusion, we report this case with an objective to reinforce the necessity of analysis of DNA methylation within the 15q11-13 region, which is an important tool for the correct diagnosis among children presenting with neonatal hypotonia, mental deficiency and obesity.

Fluorescence in situ hybridization, methylation, obesity, Prader-Willi syndrome

© Copyright 2010 Indian Journal of Human Genetics.
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