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Ring syndrome: still true?
  1. E Rossi,
  2. J Messa,
  3. O Zuffardi
  1. Genetica Medica, Università di Pavia, Pavia, Italy
  1. Professor O Zuffardi, Genetica Medica, Università di Pavia, Pavia, Italy; zuffardi{at}unipv.it

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We thank Zollino et al for giving us the opportunity to discuss the ring syndrome and its related short stature. According to Cote et al1 and Kosztolanyi,2 ring syndrome is essentially characterised by severe growth failure that can even be the sole major physical abnormality. The common growth deficiency observed across many patients with diverse ring chromosomes suggested that this phenomenon is due to mitotic instability and tissue specific mosaicism.2

A reduction in growth is one of the most common findings in patients with autosomal imbalances with a characteristic intrauterine and growth retardation.3 This can be due both to the imbalance of dosage sensitive genes involved in stature or to a general morbidity state superimposed on the malformation syndrome. Growth hormone deficiency resulting in extremely short stature has also been reported in several chromosome imbalances such as trip(22)(pter->q11),4 del(18p),5 del(15q)(q11–q13),6 7 and it seems to be related to hypothalamic dysfunction or anatomical abnormalities of …

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