The rearrangements of the 22q11.2 chromosomal region, specifically deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders [ 1, 2].
The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders.
Thus, genomic disorders encompass not only rare multiple congenital anomaly and mental retardation syndromes, but also common and complex traits, such as autism and schizophrenia, as well as other neurobehavioral phenotypes.
In recent years, it has become apparent that even some conditions associated with multiple congenital anomalies (e.g., Smith-Lemli-Opitz syndrome) have an underlying metabolic cause.
Of these 10 infants, nine had multiple congenital anomalies including heart diseases and cleft palate.
The study subjects' diagnoses were trisomy 21 with nonimmune hydrops, 46,XY, 4q+ with multiple congenital anomalies, Potter syndrome, and congenital ichthyosis.
All of these infants except one with a tongue base cyst (case no. 7) had multiple congenital anomalies including heart diseases and cleft palate; ASA physical status was III or IV in eight cases.
It is reported to occur usually in conjunction with multiple congenital anomalies like arthrogryposis multiplex congenita (AMC), Larsen syndrome, spina bifida, developmental dysplasia of hip (DDH), club foot, forefoot adduction deformity and calcaneovalgus foot deformities [3, 4, 5].
aCGH increased the ability to detect segmental genomic CNVs in patients with global developmental delay, mental retardation, autism, multiple congenital anomalies and dysmorphism, and is becoming a powerful tool in disease gene discovery and prenatal diagnostics.
The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microdeletion (del(17)(p17.2p17.2)).
The most common clinical presentations were mental retardation, developmental delay, or multiple congenital anomalies.
