@article {1867,
	title = {De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.},
	journal = {Am J Med Genet A},
	volume = {158A},
	year = {2012},
	month = {2012 Apr},
	pages = {882-7},
	abstract = {<p>Deletion of the terminal part of long arm of chromosome 4 is a condition characterized by facial dysmorphisms, cardiac and limb defects, and developmental delay. Deletions usually involve the terminal part of the chromosome and most frequently are interstitial. Here, we report a de novo interstitial deletion resulting in a microdeletion of 6.9 Mb involving 4q31.3-q32.1 segment, detected by SNPs-Array technique in a 4-year-old female showing severe speech delay, mild facial dysmorphisms, and joint laxity. Phenotype-genotype relationships looking at the genes involved in this part of the chromosome were also carried out and data compared with those previously described.</p>},
	keywords = {Abnormalities, Multiple, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 4, Developmental Disabilities, Female, Genotype, Humans, Language Development Disorders, Phenotype, Sequence Deletion},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.35239},
	author = {Fabretto, Antonella and Santa Rocca, Maria and Perrone, Maria Dolores and Skabar, Aldo and Pecile, Vanna and Gasparini, Paolo}
}
