An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature.
We report a male patient with a karyotype of 46,XY, der(4)t(1;4)(q42.1;q35.1) inherited from a maternal balanced translocation involving chromosome 1q and 4q. The boy had corpus callosum dysgenesis, laryngomalacia, tracheobronchus, facial dysmorphism, simian creases, and developmental retardation. The first three features are unique compared to previous literature reports on distal partial trisomy 1q. This case report allows a further delineation of the distal partial trisomy 1q syndrome.
Wang
C B
CB
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chia Yi, Taiwan.
Lin
S P
SP
Chen
C P
CP
Chen
Y J
YJ
Lee
C C
CC
D000015:Abnormalities, Multiple; D061085:Agenesis of Corpus Callosum; D001980:Bronchi / Q000002:abnormalities; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007830:Larynx / Q000002:abnormalities; D008297:Male; D009006:Monosomy / Q000235:genetics*; D014132:Trachea / Q000002:abnormalities; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*