Balkan Journal of Medical Genetics

16p SUBTELOMERIC DUPLICATION WITH VASCULAR ANOMALIES: AN ALBANIAN CASE REPORT AND LITERATURE REVIEW
Babameto-Laku A1,*, Mokini V1, Kuneshka N2, Sallabanda S3, Ylli Z1
*Corresponding Author: Assistant Professor Anila Babameto-Laku, Service of Medical Genetics, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania, Rr. e Dibres 370, Tirana, Albania; Tel.: +(355)-68-20-94-170 (mobile); Fax: +355-4-227-2782; E-mail: laku62@yahoo.com
page: 73

DISCUSSION

The distinguishing clinical features of dup16p syndrome, determined by the terminal 16p13.1-p13.3 critical region, include specific facial anomalies, mental retardation, congenital cardiac and vascular defects, urinary malformations, and hypoplastic distal phalanges of hands [6-11]. Our case demonstrated a duplication of the subtelomeric region of chromosome 16p representing a chromosome 16p duplication, encompassing the critical region of 16p13.1- p13.3. Facial anomalies in our patient such as thin blond thin hair, blepharophimosis with palpebral ptosis, short nose, open mouth with everted upper lip, high-arched palate, wide-spaced teeth and cupped everted ears, are similar to those reported previously by Sommer et al. [6] and De Ravel et al. [9]. Patients with large 16p duplications detected using standard techniques have also suffered from tetralogy of Fallot or ventricular septal defect [3-12] and early onset of pulmonary vascular disease has also been reported [3]. In our patient, the pulmonary hypertension was not related to congenital heart defects, which suggests that pulmonary vascular disease can be a feature of this syndrome. Thus, a cardiological evaluation and a continuous monitoring for the onset of pulmonary hypertension is recommended. The association of partial trisomy 16p (16p13.1- p13.3) with pulmonary vascular disease, pulmonary hypertension, portal cavernoma, vascular ring and vascular disruption has been reported, suggesting that this critical region is related to vascular abnormalities [13]. The presence of a cavernous liver hemangioma with pulmonary vascular disease in our case suggests a possible association between this imbalance and vascular anomalies. Terminal hypoplasia of the hands and manifestation of vascular disruption, has also been reported in association with dup16p [7]. Pre- and post-natal growth and mental retardation were present in all patients described in the literature [5-12]. The urinary abnormalities described in the literature [7] were not found in our case. In our patient, duplication in chromosome 16p was associated with deletion in chromosome 4q. That facial dysmorphisms and vascular anomalies are not usually found in deletion of the subtelomeric region of chromosome 4q, suggests that these features of dup16p syndrome result from duplication of the gene dosage of the subterminal region of chromosome 16. In conclusion, we have confirmed the clinical features of patients with dup16p, involving the terminal 16p13.1-p13.3 region. Facial anomalies, developmental delay and terminal hypoplasia of fingers are clinical features that should suggest this rare syndrome, which can be confirmed by molecular-cytogenetic analysis. The pulmonary hypertension and other vascular anomalies in our patient and in other published cases [13], can be a feature of dup16p, and suggests that this subtelomeric region can be associated with vascular anomalies.

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