title: Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.
abstract: This is a follow-up report on a male patient with a 46,Y,r(X) karyotype. Although he had no clinico-radiological features of X-linked recessive chondrodysplasia punctata (CDPX1), molecular studies revealed an Xp terminal deletion involving the putative region for the CDPX1 locus (PABX-DXS31). We suspect that the absence of CDPX1 may be attributable to the nature of the disease and the extreme short stature of the patient (mean -5.6 S.D.).
authors.affiliation: Laboratory of Human Molecular Genetics, Imperial Cancer Research Fund, London, United Kingdom.
authors.forename: T
authors.initials: T
authors.lastname: Ogata
authors.forename: P
authors.initials: P
authors.lastname: Goodfellow
authors.forename: C
authors.initials: C
authors.lastname: Petit
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
mesh_terms: D015139:Blotting, Southern; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome