An emerging phenotype of proximal 11q deletions

作者：Melis Daniela^*; Genesio Rita; Cozzolino Mariarosaria; Del Giudice Ennio; Mormile Angela; Imperati Floriana; Ronga Valentina; Della Casa Roberto; Nitsch Lucio; Andria Generoso

来源：European Journal of Medical Genetics, 2010, 53(5): 340-343.

DOI：10.1016/j.ejmg.2010.07.010

• 11q monosomy
• Interstitial deletion

Few reports of small interstitial chromosome 11q deletions are reported in the literature and no clear genotype-phenotype correlation has been demonstrated.
We describe a five years old boy who was referred to our attention because of the presence of ptosis of the left eyelid, iris coloboma and developmental delay.
Clinical examination also revealed the presence of dysmorphic features including: low frontal hairline, flat profile, round face, full cheeks, periorbital fullness, hypertelorism, broad nasal bridge, down-turned corners of the mouth.
Cytogenetic analysis, performed by array-CGH (resolution 1 Mb), revealed a deletion of chromosome 11q13.5q14.2.
The present case represents a further patient described in the literature with a small interstitial deletion of chromosome 11q. Our patient shares the dysmorphic features and the presence of developmental delay with the previously reported patients with overlapping proximal 11q deletion.
Considering these clinical and cytogenetic similarities, we suggest the existence of an emerging syndrome associated to proximal 11q deletions.

• 出版日期2010-10