Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.
McLeod
D R
DR
Department of Paediatrics, Faculty of Medicine, University of Calgary, Alberta Children's Hospital, Canada.
Wesselman
L R
LR
Hoar
D I
DI
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D002881:Chromosomes, Human, Pair 12; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D012447:Sacrum / Q000002:abnormalities; D013577:Syndrome