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 pat...
Background: Pulmonary capillary hemangiomatosis (PCH) is a rare disease, especially in infancy. Four...
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotoni...
Congenital acinar dysplasia is a lethal, developmental lung malformation resulting in neonatal respi...
Abstract: Background: Alveolar capillary dysplasia (ACD) is a rare cause of severe pulmonary hyperte...
This study reports the first case of a patient with chromosomal 2p16.1p15 microduplication syndrome ...
Background/Objectives: Genetic tests may facilitate rapid and effective diagnostics but unfortunate...
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental...
[[abstract]]We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilater...
OBJECTIVE: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic h...
Congenital pulmonary malformations should be considered in the list of differential diagnoses for pr...
Congenital lung anomalies are a group of rare malformations, often diagnosed during the prenatal per...
[[abstract]][Chen, Chih-Ping] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan; [Chen, Chih-Pi...
BACKGROUND : Application of whole genome sequencing (WGS) enables identification of non-coding varia...
BACKGROUND: congenital pulmonary airway malformation (CPAM) is the most frequent congenital lung dis...
The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key feature...
Background: Pulmonary capillary hemangiomatosis (PCH) is a rare disease, especially in infancy. Four...
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotoni...
Congenital acinar dysplasia is a lethal, developmental lung malformation resulting in neonatal respi...
Abstract: Background: Alveolar capillary dysplasia (ACD) is a rare cause of severe pulmonary hyperte...
This study reports the first case of a patient with chromosomal 2p16.1p15 microduplication syndrome ...
Background/Objectives: Genetic tests may facilitate rapid and effective diagnostics but unfortunate...
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, developmental...
[[abstract]]We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilater...
OBJECTIVE: To identify chromosomal imbalances by whole-genome microarray-based comparative genomic h...
Congenital pulmonary malformations should be considered in the list of differential diagnoses for pr...
Congenital lung anomalies are a group of rare malformations, often diagnosed during the prenatal per...
[[abstract]][Chen, Chih-Ping] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan; [Chen, Chih-Pi...
BACKGROUND : Application of whole genome sequencing (WGS) enables identification of non-coding varia...
BACKGROUND: congenital pulmonary airway malformation (CPAM) is the most frequent congenital lung dis...
The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key feature...
Background: Pulmonary capillary hemangiomatosis (PCH) is a rare disease, especially in infancy. Four...
We describe an additional newborn with craniofacial dysmorphisms, congenital heart disease, hypotoni...
Congenital acinar dysplasia is a lethal, developmental lung malformation resulting in neonatal respi...