del(18p) syndrome with complex tetralogy of Fallot in an infant with 45,X,t(Y;18)(q12;q11.2).
We report on an infant with multiple congenital anomalies, tetralogy of Fallot, and Karyotype 45,X,t(Y;18)(q12;11.2). The infant's anomalies are consistent with a del(18p) syndrome, except for the exceptional severity of the heart defect.
el Kalla
S
S
Department of Pediatrics and Genetics, Al Wasl Maternity and Pediatric Hospital, Dubai, United Arab Emirates.
Mathews
A R
AR
Menon
N S
NS
D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations; D013771:Tetralogy of Fallot / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D014998:Y Chromosome