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Chromosome 5q subtelomeric deletion syndrome


  • Anita Rauch,

    Corresponding author
    • Institute of Human Genetics, Schwabachanlage 10, 91054 Erlangen, Germany.
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    • Privatdozentin Dr. med. Anita Rauch is an Assistant Professor equivalent in Human Genetics at the University Hospital Erlangen. Her research focuses on microdeletion syndromes and the aetiology of mental retardation and MCA syndromes.

  • Helmuth-Günther Dörr

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    • Professor Dr. med. Helmuth-Günther Dörr leads the department of Pediatric Endocrinology at the University Hospital Erlangen. His major interests include growth retardation and growth hormone therapy.

  • How to cite this article: Rauch A, Dörr H-G. 2007. Chromosome 5q subtelomeric deletion syndrome. Am J Med Genet Part C Semin Med Genet 145C:372–376.


The pure 3.5 Mb subtelomeric deletion syndrome is very rare but causes a recognizable phenotype characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature with delayed bone age due to growth hormone deficiency, and multiple minor anomalies including mildly bell-shaped chest, minor congenital heart defects, and a distinct facial gestalt. Terminal deletions including the adjacent ∼2 Mb NSD1-locus show a compound phenotype with overlap to Sotos syndrome. Larger terminal deletions including also chromosomal bands 5q35.1 and 5q35.2 cause a more severe phenotype with normal body length, significant congenital heart defect, microcephaly, profound developmental retardation or early death due to respiratory failure. Heart defects in the latter are explained by haploinsufficiency of the NKX2.5 gene at 5q35.1. The deletion breakpoint of the 3.5 Mb subtelomeric microdeletion maps to a low copy repeat which is identical to the distal copy of two highly similar regions flanking the recurrent interstitial NSD1 microdeletion. As meiotic mispairing between these low copy repeats seem to be much more likely than a terminal aberration, these neighborhood may prevent occurrence of the subtelomeric deletion syndrome, which could explain the rareness of the latter. © 2007 Wiley-Liss, Inc.