A very rare case of a newborn with tetrasomy 9p and literature review.
cardiac manifestations
isochromosome
mosaicism
tetralogy of Fallot
tetrasomy 9p
Journal
The Turkish journal of pediatrics
ISSN: 2791-6421
Titre abrégé: Turk J Pediatr
Pays: Turkey
ID NLM: 0417505
Informations de publication
Date de publication:
2022
2022
Historique:
entrez:
14
3
2022
pubmed:
15
3
2022
medline:
6
5
2022
Statut:
ppublish
Résumé
Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and also vary according to the presence and degree of mosaicism. We report on a newborn with tetrasomy 9p who deceased in the newborn period. She had facial features including low-set and anteverted ears, hypertelorism, prominent nasal bridge, and microretrognathia. Bilateral ventriculomegaly, vermian hypoplasia and corpus callosum agenesis were detected on magnetic resonance imaging and double outlet right ventricle (tetralogy of Fallot type), secundum atrial septal defect, and persistent left superior vena cava were displayed by echocardiography. Microarray analysis revealed 38,584 kb tetrasomic region at 9p24.3p13.1. We also present a review of the literature suggesting that there is a recognizable phenotype for this condition and an assessment of cardiac manifestations based on the size and the localization of the breakpoints. We conclude that cardiac manifestations do not differ according to the localization of the breakpoint. Persistent left superior vena cava seems to be consistent with breakpoints distal to q12, but the present case is different from them by breakpoint p13.1.
Sections du résumé
BACKGROUND
Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and also vary according to the presence and degree of mosaicism.
CASE
We report on a newborn with tetrasomy 9p who deceased in the newborn period. She had facial features including low-set and anteverted ears, hypertelorism, prominent nasal bridge, and microretrognathia. Bilateral ventriculomegaly, vermian hypoplasia and corpus callosum agenesis were detected on magnetic resonance imaging and double outlet right ventricle (tetralogy of Fallot type), secundum atrial septal defect, and persistent left superior vena cava were displayed by echocardiography. Microarray analysis revealed 38,584 kb tetrasomic region at 9p24.3p13.1. We also present a review of the literature suggesting that there is a recognizable phenotype for this condition and an assessment of cardiac manifestations based on the size and the localization of the breakpoints.
CONCLUSIONS
We conclude that cardiac manifestations do not differ according to the localization of the breakpoint. Persistent left superior vena cava seems to be consistent with breakpoints distal to q12, but the present case is different from them by breakpoint p13.1.
Identifiants
pubmed: 35286047
pii: 2415
doi: 10.24953/turkjped.2021.685
doi:
pii:
Types de publication
Case Reports
Review
Langues
eng
Sous-ensembles de citation
IM