Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3).
A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.
Thanemozhi
G
G
Department of Genetics, Dr. A.L.M. Post Graduate Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai, India.
Santhiya
S T
ST
Chandra
N
N
Palka
G
G
Jayam
S
S
Gopinath
P M
PM
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D002894:Chromosomes, Human, Pair 4; D005220:Fathers; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007194:India; D007231:Infant, Newborn; D009006:Monosomy / Q000175:diagnosis*; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics