A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Microdeletion and Microduplication Analysis of Chinese Conotruncal Defects Patients with Targeted Array Comparative Genomic Hybridization

OBJECTIVE The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH) to detect microdeletions and microduplications in congenital conotruncal defects (CTDs), especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3. METHODS Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA), 10 do...

New Insight from Using Spatiotemporal Image Correlation in Prenatal Screening of Fetal Conotruncal Defects

A novel intragenic microdeletion in RUNX2 in a Chinese family with cleidocranial dysplasia

Objective: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia which is characterized by cranial, clavicular, and dental anomalies. Aberrations in the RUNX2 gene, which is considered to be responsible for CCD, were investigated in a Chinese family with CCD in this study. Methods: Genomic DNA was isolated from the blood samples of all 11 participants, including 3 patien...

Frequency of 22q11 deletions in patients with conotruncal defects.

OBJECTIVES This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered. BACKGROUND Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face ...

Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin

Abstract Background Delta beta (δβ) thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Homozygous patients of this disorder, unlike β-thalassemia, show mild anemia. Only few cases of δβ-thalassemia have been reported from India in the available indexed English literature. Case presentation A four-year old male child was evaluated for recent-onset...