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MINERVA PEDIATRICA

A Journal on Pediatrics, Neonatology, Adolescent Medicine,
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Minerva Pediatrica 2003 February;55(1):55-62

language: English, Italian

Interstitial deletion of the long arm of chromosome 1 (1q 25-32). Clinical and endocrine features with a long term follow-up

Maggio M. C., Iachininoto R., Arena V., Liotta A.


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Deletion of long arm of chromosome 1 (1q-) is a rare condition with malformations of many organs (central nervous system, heart, kidney, etc.). Authors describe a young girl characterised by 1q 25-32 deletion, with severe intra- and extrauterine growth retardation, facial dismorphisms, multiple organ malformations. The patient is followed for a long-term clinical and endocrine evaluation, with evidence of hypoplastic hypophysis and multiple endocrine deficiency.

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