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Congenital heart diseases (CHDs) are the most common of all birth defects. Congenital heart disease may occur as an isolated malformation or may be part of a syndrome. One of the most common syndromes associated with CHDs is the 22q11.2 microdeletion syndrome, the various conditions associated with del22q11 include DiGeorge syndrome (DGS), velocard...
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Context 1
... fissure, arched eyebrows, broad nasal bridge, de- pressed nasal bridge, hypoplastic ala nasi, skin tag on the helix, short vertical diameter of ears, umbilical hernia, epigastric her- nia, anal stenosis, microstomia, dental caries, delayed teeth eruption, laryngeal web, simian crease, camptodactyly of 5th finger, and tapering fingers (Table 9 and Fig. ...
Similar publications
DiGeorge’s syndrome is a 22q11.2 deletion leading to abnormal embryogenesis of pharyngeal arches and it is manifesting in a variety of clinical signs and symptoms. The spectrum of anomalies varies from minor facial dysmorphism and cleft palate to a broad spectrum of cardiovascular anomalies, thymic disfunction and immune deficiencies, hypocalcemia...
Citations
... 11 Fluorescent in situ hybridization (FISH) was the first methodology applied in cytogenetic microdeletion research, 12 and is currently one of the main techniques for clinical diagnosis as well as for microdeletion and microduplication analysis. 13 Through hybridization probing using doubly labeled fluorescent probes, the identification of aneuploidies and chromosomal rearrangements can be obtained in 48 hours. 14 Although genetic diseases are individually rare, their frequency as a group is an important field in medical care. ...
22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent in situ hybridization investigation for 22q11.2 deletion.
