Interstitial deletion of the long arm of chromosome 1 (1q 25-32). Clinical and endocrine features with a long term follow-up.
2003
Deletion of long arm of chromosome 1 (lq-) 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 severeintra-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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