The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders.
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].
In addition to somatic mutations, germline mutations in BRAF have recently been identified as causing CFC syndrome, a multiple congenital anomaly disorder whereby individuals have characteristic craniofacial dysmorphisms, cardiac defects, ectodermal anomalies and developmental delay [18], [26].
© 2011 Wiley-Liss, Inc. Carpenter syndrome (MIM# 201000), a classical autosomal recessive multiple congenital malformation disorder first described in 1901 [ Carpenter, 1901], is characterized by craniosynostosis, polysyndactyly, obesity and other malformations.
Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly disorder resulting from mutations in genes that encode the core components of the cohesin complex, SMC1A, SMC3, and RAD21, or two of its regulatory proteins, NIPBL and HDAC8.
Family history of features present at younger ages such as ID/DD, dysmorphic features, other congenital malformations, growth abnormalities, and cardiac malformations were binned into ID/DD and multiple congenital anomalies (MCA) disorders.
In general, patients referred for CMA analysis had variable clinical phenotypes, most often including: developmental delay and/or mental retardation (DD/MR), dysmorphic features (DF), multiple congenital anomalies (MCA), seizure disorders and autistic or other behavioral abnormalities.
In clinical diagnostics, both array comparative genomic hybridization (array CGH) and single nucleotide polymorphism (SNP) genotyping have proven to be powerful genomic technologies utilized for the evaluation of developmental delay, multiple congenital anomalies, and neuropsychiatric disorders.
In the past few years, CMA has been extensively used to investigate chromosomal aberrations in the postnatal population with unexplained neurodevelopmental disorders including developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies [ 25– 27].
Such alterations have been shown to be involved in disorders such as unexplained development delay/intellectual disability, autism spectrum disorders and multiple congenital anomalies.
