De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects

Clin Dysmorphol. 2013 Jul;22(3):132-134. doi: 10.1097/MCD.0b013e328363023b.

Authors

Melissa Alfonsi¹, Chiara Palka, Elisena Morizio, Valentina Gatta, Ivana Antonucci, Giuseppe Ruggeri, Francesco Chiarelli, Liborio Stuppia, Giandomenico Palka, Giuseppe Calabrese

Affiliation

¹ Departments of Medical Sciences, Nano and Biotechnologies Pediatrics, G. D'Annunzio University, Chieti Department of Obstetrics and Gynecology, Civilian Hospital, Avezzano Medical Genetics 'Spirito Santo' Hospital, Pescara, Italy.

PMID: 23722703
DOI: 10.1097/MCD.0b013e328363023b

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Chromosome Deletion*
Chromosomes, Human, Pair 9 / genetics*
Comparative Genomic Hybridization
Disorder of Sex Development, 46,XY / genetics*
Female
Heart Defects, Congenital / genetics
Humans
Steroidogenic Factor 1 / genetics

Substances

NR5A1 protein, human
Steroidogenic Factor 1