title: High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate.
abstract: Cleft lip with or without cleft palate is one of the most common birth defects of unknown etiology. A fraction of its genetic causes is attributable to copy number variations detected by array comparative genomic hybridization. The value of array comparative genomic hybridization screening as a first-tier test in the newborn population with multiple congenital anomalies has now been accepted. Due to unspecific clinical picture at this age, it can also be applied to neonates with isolated anomalies. Our purpose was to assess utility of array comparative genomic hybridization in the population of newborns with isolated cleft lip and palate. We conducted the study in a group of 52 Polish newborns with apparently isolated cleft lip and palate. In the study group, we found 8 rearrangements. Of these, 2 de novo events have been noted that potentially explain the phenotype. In addition, 2 novel candidate genes for cleft lip and palate, CHN2 and CDH19, are suggested. Given the high number of inherited potentially benign changes, we question the clinical utility of array comparative genomic hybridization in the newborn population with isolated cleft lip and palate, at the same time pointing to the need of skilled professional's clinical assessment at a later age. However, the value of this technology in searching for the cause of isolated anomalies cannot be underestimated.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.forename: Beata A
authors.initials: BA
authors.lastname: Nowakowska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sobecka
authors.forename: Marta
authors.initials: M
authors.lastname: Smyk
authors.forename: Jennifer
authors.initials: J
authors.lastname: Castaneda
authors.forename: Zofia
authors.initials: Z
authors.lastname: Dudkiewicz
authors.forename: Anna
authors.initials: A
authors.lastname: Kutkowska-Kaźmierczak
authors.forename: Maria M
authors.initials: MM
authors.lastname: Sąsiadek
authors.forename: Robert
authors.initials: R
authors.lastname: Śmigiel
authors.forename: Ewa
authors.initials: E
authors.lastname: Bocian
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D015820:Cadherins / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000706:statistics & numerical data*; D056915:DNA Copy Number Variations; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011044:Poland
chemical_list: C415580:CDH19 protein, human; D015820:Cadherins