Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2).

Serra, G., Giambrone, C., Antona, V., Cardella, F., Carta, M., Cimador, M., et al. (2022). Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome. THE ITALIAN JOURNAL OF PEDIATRICS, 48(1), 170 [10.1186/s13052-022-01365-9].

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

Serra, Gregorio
Primo
;
Giambrone, Clara
Secondo
;
Antona, Vincenzo;Carta, Maurizio;Cimador, Marcello;Corsello, Giovanni;Giuffre, Mario;Insinga, Vincenzo;Maggio, Maria Cristina;Pensabene, Marco;Schierz, Ingrid Anne Mandy
Penultimo
;
Piro, Ettore
Ultimo
2022-09-08

Abstract

Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2).
8-set-2022
Serra, G., Giambrone, C., Antona, V., Cardella, F., Carta, M., Cimador, M., et al. (2022). Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome. THE ITALIAN JOURNAL OF PEDIATRICS, 48(1), 170 [10.1186/s13052-022-01365-9].
File in questo prodotto:
File Dimensione Formato  
Cat Eye syndrome.pdf

accesso aperto

Tipologia: Versione Editoriale
Dimensione 910.07 kB
Formato Adobe PDF
910.07 kB Adobe PDF Visualizza/Apri

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/10447/568563
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact