Open AccessDouble Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay
Author(s) -
Giulia Parmeggiani,
Stefania Bigoni,
Barbara Buldrini,
Giampaolo Garani,
Luigi Clauser,
Manlio Galiè,
Alessandra Ferlini,
Sergio Fini
Publication year - 2017
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000480159
Subject(s) - long arm , chromosome , medicine , psychomotor learning , genetics , phenotype , deletion syndrome , sequence (biology) , pediatrics , psychomotor retardation , biology , pathology , gene , psychiatry , cognition , alternative medicine
Reported here is the case of a 1.8-year-old boy with a 9.6- Mb deletion in 6q13q14.1 and an 11.2-Mb deletion in 6q21q22.31, ascertained through array CGH, as the result of a complex de novo chromosome rearrangement. The clinical picture of this patient is characterized by severe psychomotor delay, dysmorphic features, and some congenital defects. Although, as reported in the literature, phenotypes associated with 6q deletions may vary, an attempt was made to associate the patient's symptoms to either deletion, comparing them to previously reported cases. Only a limited specific correlation was found, probably due to the prevalence of very common symptoms.