16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Pediatr Crit Care Med
; 12(6): e427-32, 2011 Nov.
Article
in En
| MEDLINE
| ID: mdl-21572369
ABSTRACT
OBJECTIVE:
Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations.DESIGN:
Descriptive case report.SETTING:
Genetic department and neonatal intensive care unit of a tertiary care children's hospital.INTERVENTIONS:
None. PATIENT We report the case of a preterm male infant, born at 26 wks of gestation. A cardiac malformation and bilateral hydronephrosis were diagnosed at 19 wks of gestation. Karyotype analysis was normal, and a 22q11.2 microdeletion was excluded by fluorescence in situ hybridization analysis. A cesarean section was performed due to fetal distress. The patient developed persistent pulmonary hypertension unresponsive to mechanical ventilation and nitric oxide treatment and expired at 16 hrs of life. MEASUREMENTS AND MAINRESULTS:
An autopsy revealed partial atrioventricular canal malformation and showed bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis and annular pancreas. Array-based comparative genomic hybridization analysis (Agilent oligoNT 44K, Agilent Technologies, Santa Clara, CA) showed an interstitial microdeletion encompassing the forkhead box gene cluster in 16q24.1. Review of the pulmonary microscopic examination showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins. Some features were less prominent due to the gestational age.CONCLUSIONS:
Our review of the literature shows that alveolar capillary dysplasia with misalignment of pulmonary veins is rare but probably underreported. Prematurity is not a usual presentation, and histologic features are difficult to interpret. In our case, array-based comparative genomic hybridization revealed a 16q24.1 deletion, leading to the final diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. It emphasizes the usefulness of array-based comparative genomic hybridization analysis as a diagnostic tool with implications for both prognosis and management decisions in newborns with refractory persistent pulmonary hypertension and multiple congenital malformations.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Persistent Fetal Circulation Syndrome
/
Pulmonary Veins
/
Chromosomes, Human, Pair 16
/
Chromosome Deletion
/
Hypertension, Pulmonary
Type of study:
Prognostic_studies
Limits:
Humans
/
Male
/
Newborn
Language:
En
Journal:
Pediatr Crit Care Med
Journal subject:
PEDIATRIA
/
TERAPIA INTENSIVA
Year:
2011
Type:
Article
Affiliation country:
Switzerland