Human Genetics

, Volume 104, Issue 1, pp 64–72

Delineation of two distinct 6p deletion syndromes

  • Angela F. Davies
  • Ghazala Mirza
  • Gurbax Sekhon
  • Peter Turnpenny
  • Frank Leroy
  • Frank Speleman
  • Caroline Law
  • Nicole van Regemorter
  • Esther Vamos
  • Frances Flinter
  • J. Ragoussis
Original investigation

DOI: 10.1007/s004390050911

Cite this article as:
Davies, A., Mirza, G., Sekhon, G. et al. Hum Genet (1999) 104: 64. doi:10.1007/s004390050911

Abstract

Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22–p24 segment and terminal deletions within the 6p24–pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23–p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • Angela F. Davies
    • 1
  • Ghazala Mirza
    • 1
  • Gurbax Sekhon
    • 2
  • Peter Turnpenny
    • 3
  • Frank Leroy
    • 4
  • Frank Speleman
    • 4
  • Caroline Law
    • 5
  • Nicole van Regemorter
    • 6
  • Esther Vamos
    • 6
  • Frances Flinter
    • 1
  • J. Ragoussis
    • 1
  1. 1.Division of Medical Molecular Genetics, Guy’s Tower, The Guy’s King’s College and St. Thomas’ Hospitals’ Medical and Dental School, Guy’s Hospital, London SE1 9RT, UK e-mail: i.ragoussis@umds.ac.uk, Tel: +44-171-9554438, Fax: +44-171-9554444GB
  2. 2.Cytogenetics Laboratory, Waisman Center Room 213, 1500 Highland Ave, Madison, WI 53705-22080, USAUS
  3. 3.Clinical Genetics Service, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UKGB
  4. 4.Center for Medical Genetics, University Hospital Ghent, De Pintelaan 185, B-9000 Ghent, BelgiumBE
  5. 5.Wessex Clinical Genetics Service, The Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UKGB
  6. 6.Unite de Cytogenetique, Hopital Universitaire Brugman, Place Arthur van Gehuchten 4, B-1020 Brussels, BelgiumBE