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.
Maggio M.C., Iachininoto R., Arena V., Liotta A. (2003). Interstitial deletion of the long arm of chromosome 1 (1q 25-32): Clinical and endocrine features with a long term follow-up. MINERVA PEDIATRICA, 55(1), 55-61.
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.;Liotta A.
2003-01-01
Abstract
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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