<abstract xmlns="http://www.w3.org/1999/xhtml"><p> A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. The karyotype of his parents was normal and their MLPA analysis also indicated a de novo imbalance. He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia. He also had pulmonary hypertension with tricuspidal regurgitation; cavernous liver hemangioma anomalies have been previously described in association with dup16p. We concluded that pulmonary and other vascular anomalies can be a feature of dup16p. We believe this is the first confirmed case of a 16p subtelomeric duplication with vascular anomalies identified in Albania.</p></abstract>

A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. The karyotype of his parents was normal and their MLPA analysis also indicated a de novo imbalance. He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia. He also had pulmonary hypertension with tricuspidal regurgitation; cavernous liver hemangioma anomalies have been previously described in association with dup16p. We concluded that pulmonary and other vascular anomalies can be a feature of dup16p. We believe this is the first confirmed case of a 16p subtelomeric duplication with vascular anomalies identified in Albania.

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

Service of Medical Genetics, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania

Service of Pediatric Cardiology, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania

Service of Intensive Care, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania

Balkan Journal of Medical Genetics

A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and...

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

Publié en ligne: 02 avr. 2013

Pages: 73 - 76

DOI: https://doi.org/10.2478/bjmg-2013-0010

Mots clés
Duplication chromosome 16p, Multiplex ligation-dependent probe amplification (MLPA) technique, Pulmonary hypertension

This content is open access.

16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

Publié en ligne: 02 avr. 2013

Pages: 73 - 76

DOI: https://doi.org/10.2478/bjmg-2013-0010

Mots clésDuplication chromosome 16p, Multiplex ligation-dependent probe amplification (MLPA) technique, Pulmonary hypertension

This content is open access.

Mots clés
Duplication chromosome 16p, Multiplex ligation-dependent probe amplification (MLPA) technique, Pulmonary hypertension