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Familial pericentric inversion of chromosome 1 (p36.3q23) and Bardet-Biedl syndrome
  1. S M TAYEL,
  2. R L AL-NAGGAR,
  3. D S KRISHNA MURTHY,
  4. K K NAGUIB,
  5. S A AL-AWADI
  1. Kuwait Medical Genetics Centre, Maternity Hospital, PO Box 31121, Sulaibikhat 80901, Kuwait
  2. Histology Department, Faculty of Medicine, Great Al-Fateh University of Medical Sciences, Tripoli, Libya
    1. N A ABOU KARSH
    1. Kuwait Medical Genetics Centre, Maternity Hospital, PO Box 31121, Sulaibikhat 80901, Kuwait
    2. Histology Department, Faculty of Medicine, Great Al-Fateh University of Medical Sciences, Tripoli, Libya

      http://dx.doi.org/10.1136/jmg.36.5.418

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        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 …

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