Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?
A 4-year-old boy with left cleft lip and cleft palate, multiple minor anomalies and developmental delay revealed an abnormal chromosome 2 with enlarged proximal long arm, de novo, in his karyotype. Fluorescence in situ hybridization with a chromosome 2 library and band-specific YACs confined the duplicated segment to 2q11.1-q13.2 and indicated a direct tandem duplication due to unbalanced crossover between chromatids.
Riegel
Mariluce
M
Institute of Medical Genetics, University of Zürich, Switzerland.
Schinzel
Albert
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D018244:Chromosomes, Artificial, Yeast; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics / Q000648:ultrastructure*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D018895:Microsatellite Repeats; D014034:Toes / Q000002:abnormalities; D014314:Trisomy