title: Pallister-Killian syndrome: the first reported case in Hong Kong.
abstract: Pallister-Killian syndrome was first described in 1977 by Pallister, et al. It is a multiple congenital anomalies/mental retardation syndrome caused by mosaic tetrasomy of chromosome 12p. The chromosomal abnormality is often missed if only peripheral lymphocytes are examined, and bone marrow or cultured skin fibroblasts may be required for confirmation. Here we report the first case in Hong Kong.
authors.affiliation: Department of Health, 2/F Cheung Sha Wan Jockey Club Clinic, Kowloon, Hong Kong.
authors.forename: I F
authors.initials: IF
authors.lastname: Lo
authors.forename: L Y
authors.initials: LY
authors.lastname: Cheung
authors.forename: F W
authors.initials: FW
authors.lastname: Lam
authors.forename: S T
authors.initials: ST
authors.lastname: Lam
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D005500:Follow-Up Studies; D005819:Genetic Markers / Q000235:genetics; D006723:Hong Kong; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D013577:Syndrome
chemical_list: D005819:Genetic Markers