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Mol Cytogenet. 2014 Jun 5;7:36. doi: 10.1186/1755-8166-7-36. eCollection 2014.

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension.

Author information

1
Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti 12, Pecs H-7624, Hungary ; Szentágothai Research Centre, University of Pecs, Ifjusag 20, Pecs H-7624, Hungary.
2
Department of Pediatrics, Clinical Centre, University of Pecs, Jozsef Attila 7, Pecs H-7623, Hungary.

Abstract

The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-old girl with growth failure, developmental delay, ventricular septum defect in the subaortic region, patent foramen ovale and patent ductus arteriosus, vascular malformation of the lung, dysgenesis of the corpus callosum and craniofacial dysmorphism using array-comparative genomic hybridization. This de novo deletion is located at 4q28.3-31.23 (136,127,048 - 150,690,325), its size is 14.56 Mb, and contains 8 relevant genes (PCDH18, SETD7, ELMOD2, IL15, GAB1, HHIP, SMAD1, NR3C2) with possible contributions to the phenotype. Among other functions, a role in lung morphogenesis and tubulogenesis can be attributed to the deleted genes in our patient, which may explain the unique feature of vascular malformation of the lung leading to pulmonary hypertension. With the detailed molecular characterization of our case with 4q- syndrome we hope to contribute to the elucidation of the genetic spectrum of this disorder.

KEYWORDS:

4q28.3-31.23; Array CGH; Complex malformation syndrome; Deletion; Developmental delay; Face dysmorphia; Pulmonary hypertension; Vascular malformation of the lung

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