TY - JOUR T1 - Familial pericentric inversion of chromosome 1 (p36.3q23) and Bardet-Biedl syndrome JF - Journal of Medical Genetics JO - J Med Genet SP - 418 LP - 419 DO - 10.1136/jmg.36.5.418 VL - 36 IS - 5 AU - S M TAYEL AU - R L AL-NAGGAR AU - D S KRISHNA MURTHY AU - K K NAGUIB AU - S A AL-AWADI AU - N A ABOU KARSH Y1 - 1999/05/01 UR - http://jmg.bmj.com/content/36/5/418.abstract N2 - Editor—We report a familial pericentric inversion (PEI) of chromosome 1 (p36.3q23) in six patients with Bardet-Biedl syndrome (BBS). The proband (III.6, fig 1), an 11 year old Libyan female, was referred for chromosomal analysis because of obesity, polydactyly, and poor vision. She was clinically diagnosed as having BBS. After clinical examination and investigations of her family members, another two sibs (III.3 and III.8) and three maternal cousins (III.10, 11, 12) were ascertained as having BBS. The clinical findings in these patients are presented in table 1. Chromosomal analysis of 100 metaphase spreads using Giemsa trypsin (GTG) banding showed that the proband had PEI (1) (fig 2) with karyotype 46,XX,inv(1)(p36.3 q23). The family members with BBS (III.3, 8, 10, 11, 12) all had the same inversion with the same breakpoints, which was … ER -