Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations.

Deletions of the long arm of chromosome 6 were first described in 1973 by Mikkelsen et al. and they constitute rare genetic anomalies that usually occur de novo [1]. There are less than a hundred cases described worldwide and the phenotypes vary according to the size and location of the deleted region, although some common characteristics are frequently found, such as developmental delay, hypotonia, facial dysmorphisms, micrognathia, microcephaly, ear anomalies, inguinal and/or umbilical hernias and cardiac malformations [2–4]. Hopkin and its colleagues proposed the existence of three phenotypic groups, according to the deleted region. The first group would include the proximal deletions (6q11–q16), frequently associated to hernias, upslanting palpebral fissures and thin lips; the second one would include the medial deletions (6q15–q25), associated to an intrauterine growth retardation, respiratory distress, hypertelorism and upper limb malformations; finally, the third group would concern the terminal deletions (6q25–qter), associated to retinal abnormalities, cleft palate and genital hypoplasia [2]. A search of the published literature allowed the gathering of more specific and diagnostic features related to the first group (6q11–q16). We point out the presence of epicanthus, large nasal tip, anteverted nares, wide