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

Maria Cristina Maggio, Iachininoto, Maggio, Andrea Liotta

Risultato della ricerca: Articlepeer review

5 Citazioni (Scopus)

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.
Lingua originaleItalian
pagine (da-a)55-61
Numero di pagine7
RivistaMinerva Pediatrica
Volume55
Stato di pubblicazionePublished - 2003

All Science Journal Classification (ASJC) codes

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