A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero.
We describe the phenotypic features in a newborn infant with an unbalanced translocation 46,XY, der(22) inv(4) (p14p16.1) t(4;22) (p15.1;q13.31)pat. The phenotype was consistent with partial trisomy 4p syndrome. Severe bilateral hydronephrosis was diagnosed at a 31 week prenatal ultrasound scan. Both the patient phenotype and the partial trisomy are unusual, the latter due to the complex nature of the chromosomal rearrangement.
Neas
Katherine R
KR
Department of Clinical Genetics, The Children's Hospital at Westmead, NSW, Australia. kathern2@chw.edu.au
Chia
Nicole
N
Clarke
Melanie
M
Peters
Gregory
G
Adès
Lesley C
LC
D002894:Chromosomes, Human, Pair 4; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D007231:Infant, Newborn; D010641:Phenotype; D012720:Severity of Illness Index; D014314:Trisomy; D016216:Ultrasonography, Prenatal