title: Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.
abstract: We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.
authors.affiliation: Genetics and IVF Institute, Fairfax, Virginia 22031.
authors.forename: D P
authors.initials: DP
authors.lastname: Bick
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: P A
authors.initials: PA
authors.lastname: Price
authors.forename: L
authors.initials: L
authors.lastname: Campbell
authors.forename: R W
authors.initials: RW
authors.lastname: Huff
authors.forename: L J
authors.initials: LJ
authors.lastname: Shapiro
authors.forename: C M
authors.initials: CM
authors.lastname: Moore
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D001192:Arylsulfatases / Q000172:deficiency; D015139:Blotting, Southern; D001921:Brain / Q000002:abnormalities; D002135:Calcium-Binding Proteins / Q000032:analysis; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D005058:Eunuchism / Q000175:diagnosis* / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000172:deficiency; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D009832:Olfactory Nerve / Q000002:abnormalities; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations; D043266:Steryl-Sulfatase; D016216:Ultrasonography, Prenatal; D014960:X Chromosome; D000097568:Matrix Gla Protein
chemical_list: D001192:Arylsulfatases; D002135:Calcium-Binding Proteins; D016326:Extracellular Matrix Proteins; D007987:Gonadotropin-Releasing Hormone; D043266:Steryl-Sulfatase; D000097568:Matrix Gla Protein