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. (c) 2017 S. Karger AG, Basel

Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay

Parmeggiani, Giulia
Primo
Writing – Original Draft Preparation
;
Bigoni, Stefania
Secondo
Writing – Original Draft Preparation
;
Garani, Giampaolo
Writing – Original Draft Preparation
;
Clauser, Luigi
Writing – Original Draft Preparation
;
Galiè, Manilo;Ferlini, Alessandra
Penultimo
Writing – Review & Editing
;
Fini, Sergio
Ultimo
Writing – Review & Editing
2018

Abstract

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. (c) 2017 S. Karger AG, Basel
Parmeggiani, Giulia; Bigoni, Stefania; Buldrini, Barbara; Garani, Giampaolo; Clauser, Luigi; Galiè, Manilo; Ferlini, Alessandra; Fini, Sergio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2384538
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