Attenuated Phenotype in a Patient with Prader-Willi Syndrome and Duplication 16P11.2 Detected by Chromosomal Microarray

Vidit Bhargava, Sally S. Robinson, Fadeke T. Adewole, Phillip D.K. Lee

Research output: Contribution to journalArticlepeer-review


Objective: We report an unusual case of Prader-Willi Syndrome (PWS) presenting with clinical signs and symptoms suggestive of Angelman Syndrome (AS), without exclusive features of PWS. Methods: A deletion in the 15q11-13 region is associated with 2 distinctive genetic syndromes depending on the parent of origin: AS and PWS. AS is characterized by developmental delays, seizures, microcephaly, movement or balance disorders, speech disorders, and happy demeanor. PWS is characterized by hypotonia, hyperphagia, and developmental delays. An 11.5-year-old female was evaluated for developmental delay with cognitive disabilities, minimal speech, echolalia, and continuous hand motions. The patient had a pleasant but minimally interactive demeanor. Results: Chromosomal microarray analysis revealed a 5.02 Mb interstitial deletion of 15q11.2>q13.1 (base pairs 21,192,943 to 26,213,571), consistent with PWS or AS, and a 604 kb interstitial duplication of 16p11.2 (base pairs 29,530,197 to 30,134,432). Based on her presentation, AS was suspected; however, methylation analysis confirmed the diagnosis of PWS, with the presence of only the maternal copy of 15q11.2q13.1. Conclusion: Although variable phenotypic presentation of PWS has been reported, this case is particularly unusual in having only a few typical features of PWS while presenting as possible AS. We postulate that the 16p11.2 duplications, involving an autism susceptibility region, may have attenuated some features of PWS.

Original languageEnglish (US)
Pages (from-to)e329-e332
JournalAACE Clinical Case Reports
Issue number4
StatePublished - Sep 1 2016
Externally publishedYes

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism


Dive into the research topics of 'Attenuated Phenotype in a Patient with Prader-Willi Syndrome and Duplication 16P11.2 Detected by Chromosomal Microarray'. Together they form a unique fingerprint.

Cite this