title: 16p subtelomeric duplication: a clinically recognizable syndrome.
abstract: We report on two patients with duplication of the subterminal region of chromosome 16p (dup16p) recognized by fluorescent in situ hybridization (FISH) telomere analysis, presenting with closely overlapping facial features and neurological impairment. Distinct facial anomalies included high forehead, sparse eyebrows, blepharophimosis, short nose, everted upper lip, high-arched palate, wide-spaced teeth, and cupped anteverted ears. Susceptibility to vascular anomalies, in particular pulmonary hypertension and portal cavernoma, was found in one patient. Subtelomeric analysis by FISH demonstrated a de novo duplication of the subtelomeric region of chromosome 16p and a deletion of the subtelomeric region of chromosome 4q in case 1, and duplication of the subtelomeric region of 16p and a deletion of the subtelomeric region of 21q, resulting from malsegregation of a balanced maternal traslocation t(16pter;21qter) in case 2. The extension of duplicated regions measured by array-comparative genome hybridization was about 12 Mb on 16p13.3p13.13 in case 1, and about 8.5 Mb on 16p13.3p13.2 in case 2. In conclusion, we reported a clinically recognizable disorder in two patients with dup16p. Pulmonary hypertension, vascular ring, and manifestations of vascular disruption, as terminal hypoplasia of hands and aplasia cutis, have been previously described in association with dup16p. Thus, susceptibility to pulmonary vascular disease and other vascular anomalies can be a feature of dup16p, suggesting that this subtelomeric region in some respect could be related to vascular anomalies.
authors.affiliation: Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Anna
authors.initials: A
authors.lastname: Capalbo
authors.forename: Rossella
authors.initials: R
authors.lastname: Capolino
authors.forename: Maria Giulia
authors.initials: MG
authors.lastname: Gagliardi
authors.forename: Bruno
authors.initials: B
authors.lastname: Marino
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000473:pathology; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D013577:Syndrome; D016615:Telomere / Q000235:genetics*