First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.

摘要

Constitutional interstitial deletions of the long arm of chromosome 5 are extremely rare with only 36 cases reported [Courtens et al., 1998]. Deletions distal to 5q33 have been reported only in 10 patients [Joseph et al., 1990; Kleczkowska et al., 1993; Stratton et al., 1994; Giltay et al., 1997; Gibbons et al., 1999; Krammer et al., 1999; Pauli et al., 1999; Spranger et al., 2000; Schafer et al., 2001; Schiffer et al., 2003]. To our knowledge, there are no reports of constitutional interstitial deletion, del(5)(q33q35) in adolescents. Here, we report on a 17-year-old Caucasian female with del(5)(q33.1q35.1) presenting with primary amenorrhea, seizures, and severe behavioral and mental deficiencies.