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

CASE REPORT

The male patient was the first child of healthy non consanguineous parents. His mother and father were 32 and 40 years old, respectively, at the time of his birth. Family history was unremarkable. He was born by vaginal delivery at the 35th week of a normal gestation. Birth weight was 2450 g, length 49 cm, and head circumference 34 cm. He was referred to our service when he was 12 months old. Clinical evaluation demonstrated microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears (Figure 1a and 1b) and bilateral inguinal hernia, hypotonia and developmental delay. A two-dimensional color Doppler echocardiography revealed pulmonary hypertension and tricuspid regurgitation. The hypertension was not related to congenital heart defects. Cardiac catheterization showed a systemic level pulmonary artery pressure, elevated pulmonary vascular resistance, and no response to administration of oxygen and nitric oxide. Cerebral magnetic resonance imaging (MRI) demonstrated corpus callosum hypoplasia. Renal ultrasonography was normal and abdominal ultrasonography showed a cavernous liver hemangioma. Ophthalmologic evaluation was normal. At 2 years old, he presented developmental delay and moderate mental retardation. Chromosome analysis carried out on peripheral lymphocytes using standard techniques by R banding revealed the karyotype 46,XY,der(4) (Figure 2). Subtelomeric regions were analyzed using the multiplex ligation-dependent probe amplification (MLPA) technique (with probes for testing subtelomeric imbalances in the SALSA P070 and P036B human telomere test kits; MRC-Holland, Amsterdam, The Netherlands). This revealed a duplication of the subtelomeric region of chromosome 16p and a deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. Cytogenetic analysis of the parents revealed normal karyotypes and no duplication of the subtelomeric region of 16p by MLPA technique. This indicates that the imbalance was a de novo event.

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