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.
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.
File in questo prodotto:
File Dimensione Formato  
Minerva_Pediatrica_55_2003.pdf

Solo gestori archvio

Tipologia: Versione Editoriale
Dimensione 74.78 kB
Formato Adobe PDF
74.78 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/405505
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 6
  • ???jsp.display-item.citation.isi??? ND
social impact