IMPE Abstracts

We describe a female patient with a contiguous gene deletion and duplication syndrome encompassing 223 genes, only manifesting features of BLM (Bloom Syndrome), AGLB1 (Fuchs' dystrophy) and ACAN (Aggreccan Gene Mutation). Our study was started with the observation and follow-up of a 8-year-old pre-term child with short stature (-2.8SD), a peculiar phenotype, microcephaly, ogival palate, short neck, wide nasal bridge, bushy eyebrows and eyelashes, scoliosis, umbilical hernia, eczematous lesions, xerosis and lichenification and onychodystrophy. Personal History of IUGR, hypothyroidism and persistent bronchial asthma and recurring episodes of pneumonia during early childhood and family history of a sibling who died from a brain tumor at 21-days-old. Molecular characterization was performed by CGH microarray, which revealed the loss of a ~5053 Kbp sized copy of an interstitial region within the long arm of the chromosome 15 which includes 69 gene and the gain of a ~11037 Kbp sized copy of an interstitial region within the long arm of chromosome 15 too that includes 154 genes. To our knowledge, other CNVs similar in size in position have not been described in affected patients with overlapping phenotypes with that of the patient. It is important to note, that the deletion identified does not include the critical region of the recurrent 15q25 deletion associated with a phenotype syndromic (OMIM® 614294). The application of high resolution molecular genetic techniques such as array CGH, in normal karyotype cases with growth retardation, short stature and intellectual disabilities allows the identification of chromosomal rearrangements, and provides information for accurate genetic counseling, certain treatment and personalized follow-up.