LETTER TO JMG

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion

C Gagliardi¹, M C Bonaglia¹, A Selicorni², R Borgatti¹, R Giorda¹

¹ IRCCS "E Medea", Bosisio Parini, Lecco, Italy
² Clinica Pediatrica De Marchi, Milano, Italy

Correspondence to:
Correspondence to:
Dr R Giorda, IRCCS "E. Medea", Via Don Luigi Monza 20, 23842 Bosisio Parini (LC), Italy;
rgiorda@bp.lnf.it

Keywords: Williams syndrome; visuospatial and visuoconstructive abilities; cognitive profile; chromosome deletion

The first 150 words of the full text of this article appear below.

Williams syndrome (WS, MIM 194050) is a rare (frequency 1/20 000) multisystemic disorder¹ caused by haploinsufficiency of genes at 7q11.23.^2–4 WS is associated with dysmorphic facial features, supravalvular aortic stenosis (SVAS) and other cardiovascular diseases, infantile hypercalcaemia, and growth deficiency. The full intelligence quotient (IQ) of WS subjects is usually in the 50s to 60s, with a unique cognitive profile, characterised by relatively good verbal abilities alongside a low level of spatial and constructive organisation.^5–7 This different pattern of abilities has been named the "WS cognitive profile" (WSCP).⁸

More than 95% of clinically defined WS patients have a de novo deletion of about 1.5 Mb, with the breakpoints clustered within two highly homologous regions flanking the WS region.⁹ Several genes have been mapped within the deleted region,¹⁰ including syntaxin 1A (STX1A)¹¹ that codes for a component of the synaptic apparatus, and RFC2¹² that encodes a subunit of the . . . [Full text of this article]

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