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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes
  1. M A Aldred1,
  2. R O C Sanford2,3,
  3. N S Thomas2,3,
  4. M A Barrow4,
  5. L C Wilson5,
  6. L A Brueton6,
  7. M C Bonaglia7,
  8. R C M Hennekam8,
  9. C Eng9,
  10. N R Dennis2,10,
  11. R C Trembath1,4
  1. 1Division of Medical Genetics, Departments of Genetics and Cardiovascular Sciences, University of Leicester, Leicester, UK
  2. 2Human Genetics Division, University of Southampton, Southampton, UK
  3. 3Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK
  4. 4Leicestershire Genetics Centre, University Hospitals of Leicester NHS Trust, Leicester, UK
  5. 5Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital NHS Trust, London, UK
  6. 6West Midlands Genetics Service, Birmingham Women’s Hospital, Birmingham, UK
  7. 7IRCCS E. Medea, Bosisio Parini, Lecco, Italy
  8. 8Department of Paediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands
  9. 9Human Cancer Genetics Program and Division of Human Genetics, The Ohio State University, Columbus, OH, USA
  10. 10Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
  1. Correspondence to:
 Dr M A Aldred
 Division of Medical Genetics, Adrian Building, University of Leicester, University Road, Leicester LE1 7RH, UK;

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Terminal deletions of the long arm of chromosome 2 (2q37) have been recorded in the literature for more than a decade and an associated syndrome first became apparent when nine patients were reported with an Albright hereditary osteodystrophy (AHO)-like metacarpal/metatarsal shortening (brachymetaphalangism).1,2 This is also known as brachydactyly-mental retardation syndrome (BDMR, MIM 600430). To date, some 60 or so cases of 2q37 deletion or monosomy resulting from unbalanced translocations have been reported. Significant variability in clinical presentation is apparent, but almost all patients have some degree of mental retardation and facial dysmorphism. Brachymetaphalangism has been reported in approximately 50% of cases.1–15 Congenital heart anomalies are present in around 20% of patients with 2q37 monosomy,16–22 compared to 1% of the general population. These are predominantly atrial or ventricular septal defects, but more complex problems have been reported.17,22 Additionally, there are two reports of tetralogy of Fallot with monosomy 2q37 resulting from unbalanced translocations,23,24 but both cases were also trisomic for 17q25 and it is not clear which imbalance was causative. Other phenotypes repeatedly associated with 2q37 deletions include Wilms tumor and urogenital anomalies,6,17,19 epilepsy,1,2,7–9,14,16,20,25–27 eczema,2,5–7,16,28,29 and autism or repetitive, hyperkinetic behaviour.1,2,5,7,10,11,15,16,19,25,26,28–32 Situs abnormalities have been reported in two cases9 and holoprosencephaly in one infant.33

Most 2q37 rearrangements reported to date have been only minimally characterised by conventional cytogenetics or subtelomeric fluorescent in situ hybridisation (FISH). A small number have been subjected to more detailed analysis using multiple FISH clones or microsatellite markers,2,10,15,26 but the ability to assign breakpoints and make genotype–phenotype correlations has been …

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  • This work was supported by the Wellcome Trust through a grant to PJ and an Advanced Training Fellowship to MAA (ref: 064271/Z/01/Z).

  • Conflict of interest: none declared.