A dysmorphic newborn infant with a complex rearrangement involving chromosomes 2, 4, and 6 detected by fluorescence in situ hybridization (FISH).
A newborn female infant with multiple congenital anomalies was found to have an unusual and abnormal karyotype. Cytogenetic studies revealed an apparent balanced translocation between chromosome 4q31.3 and chromosome 6q25.1. Additional material on chromosome 2p was identified and determined to be from chromosome 6q by analysis with fluorescence in situ hybridization (FISH). The karyotype is 46,XX,der(2)t(2;6)(p23;q25.1), t(4;6)(q31.3;q25.1). Her mother has a normal female karyotype. The father was unavailable for physical examination or cytogenetic analysis.
Hoffman
David J
DJ
Section of Neonatal Medicine, MCP-Hahnemann School of Medicine and St. Christopher's Hospital for Children, Philadelphia, Pennsylvania, USA.
Punnett
Hope H
HH
Pyeritz
Reed E
RE
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2; D002894:Chromosomes, Human, Pair 4; D002896:Chromosomes, Human, Pair 6; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D014178:Translocation, Genetic