A new case of monosomy for 17q25----qter due to a maternal translocation [t(3;17)(p12;q24)].
An 18-month-old girl was found to have monosomy for 17q25----qter which resulted from an unequal crossing-over in the mother carrying an apparently balanced translocation 46, XX, t(3;17) (p12;q24). Clinical features of the proband included: cleft palate, micrognathia and glossoptosis. It seems to be the first reported case where a single band deletion in the long arm of chromosome 17 has ever been noted.
Luke
S
S
Division of Genetics, Long Island College Hospital, Brooklyn, New York 11201.
Bennett
H S
HS
Pitter
J H
JH
Verma
R S
RS
D002886:Chromosomes, Human, Pair 17; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009006:Monosomy; D014178:Translocation, Genetic / Q000235:genetics*