The chromosome 1q21. 1 duplication syndrome (OMIM# 612475) is characterized by head
anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features …

Purpose: Chromosome 16p11. 2 deletion syndrome (OMIM# 611913) is a rare genetic
condition resulting from the partial deletion of approximately 35 genes located at …

Williams Syndrome narratives tend to display atypically frequent uses of evaluative
language. The aim of the present study is to determine the narrative language profiles of a …

Duplications of the distal region of the short arm of chromosome 9 are rare, but are
associated with learning disabilities and behavioral disturbances. We report in detail the …

Las cromosomopatías consisten en duplicaciones o deleciones de fragmentos
cromosómicos que suelen conllevar alteraciones del lenguaje. Debido a su baja …

La presente tesis doctoral aborda el estudio del fenotipo lingüístico del síndrome de
Williams y forma parte de la investigación de la correlación genotipo-fenotipo y de la …

Deletions and duplications of the distal region of the long arm of chromosome 1 are
associated with brain abnormalities and developmental delay. Because duplications are …