A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature.
8q duplication
Ambiguous genitalia
DMRT genes
Deletion 9p syndrome
Disorders of sex development
Journal
Cytogenetic and genome research
ISSN: 1424-859X
Titre abrégé: Cytogenet Genome Res
Pays: Switzerland
ID NLM: 101142708
Informations de publication
Date de publication:
2019
2019
Historique:
accepted:
17
12
2018
pubmed:
30
5
2019
medline:
19
9
2019
entrez:
30
5
2019
Statut:
ppublish
Résumé
Deletion of distal 9p is associated with a rare clinical condition characterized by dysmorphic features, developmental delay, and ambiguous genitalia. The phenotype shows variable expressivity and is related to the size of the deletion. 8q24 duplication has been reported in only few cases to date, all showing dysmorphic features and mild psychomotor developmental delay. A case of chromosomal aberration involving a 9p terminal deletion with an 8q duplication has never been reported. Here, we describe a child with a female phenotype, male karyotype, dysmorphic features, ambiguous genitalia, and developmental delay. In order to assess the cause of the patient's phenotype, conventional karyotyping, FISH, and a chromosomal microarray analysis were performed on the patient and her parents. The cytogenetic and molecular analysis revealed an unbalanced chromosomal aberration with a duplication in the long arm of chromosome 8 at 8q24.11q24.3 associated with a distal deletion in the short arm of chromosome 9 at 9p24.3p24.1, derived from a maternal balanced translocation. We compared the clinical picture of our patient with other similar cases reported in the literature and found that some clinical findings, such as strabismus, symphalangism of the first finger, and cubitus valgus, have never been previously associated with 9p deletion or 8q duplication expanding the phenotypic range of this condition. This study is aimed to better define the clinical history and prognosis of patients with this rare chromosomal aberration.
Identifiants
pubmed: 31141803
pii: 000500619
doi: 10.1159/000500619
doi:
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
74-82Informations de copyright
© 2019 S. Karger AG, Basel.