Clinical and molecular characterization of a patient with a 2q22.3 to 2q24.1 deletion

Anila Babameto–Laku; Vahe Mokini; Dorina Roko; Donjeta Bali

Volume : V, Issue : VII, July - 2015

Clinical and molecular characterization of a patient with a 2q22.3 to 2q24.1 deletion

Anila Babameto Ndash Laku, Vahe Mokini, Dorina Roko, Donjeta Bali

Abstract :

Background: Most of the reported cases with 2q interstitial deletion have been detected by banding cytogenetic techniques. Applying array–based comparative genomic hyidization (array–CGH), the detection rate of submicroscopic chromosomal abnormalities improved considerably. Case report: Here we report on an Albanian boy, five years old, with mental retardation, hypotonia, dysmorphic features and hand/foot abnormalities. A complex cryptic rearrangement of chromosome 2 including a small deletion in 2p12 (547kb, chr2: 75, 145, 737–75, 692, 546) bp) that overlaps with copy–number variant region and a deletion 2q22.3 to 2q24.1 (9.4 Mb, chr2: 145, 809, 240–155, 187, 403) encompassing relevant genes was identified by array–CGH 180 K (Agilent hg19). Conclusion: Our case provide further evidence for the existence of a microdeletion 2q23q24 syndrome and adds new information potentially critical region, involved genes and clinical features