Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

Détails

ID Serval
serval:BIB_128EA70DC28E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion
Périodique
Prenatal Diagnosis
Auteur⸱e⸱s
Bick  D. P., Schorderet  D. F., Price  P. A., Campbell  L., Huff  R. W., Shapiro  L. J., Moore  C. M.
ISSN
0197-3851 (Print)
Statut éditorial
Publié
Date de publication
01/1992
Volume
12
Numéro
1
Pages
19-29
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jan
Résumé
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.
Mots-clé
Adult Amniocentesis Amniotic Fluid/chemistry Arylsulfatases/deficiency Blotting, Southern Brain/abnormalities Calcium-Binding Proteins/analysis Chondrodysplasia Punctata/*diagnosis/*genetics *Chromosome Deletion Eunuchism/*diagnosis/*genetics *Extracellular Matrix Proteins Female Gonadotropin-Releasing Hormone/deficiency Humans Ichthyosis/*diagnosis/*genetics Karyotyping Kidney/abnormalities Olfactory Nerve/abnormalities Pregnancy Pregnancy Trimester, Second *Prenatal Diagnosis *Sex Chromosome Aberrations Steryl-Sulfatase Ultrasonography, Prenatal *X Chromosome
Pubmed
Web of science
Création de la notice
28/01/2008 12:58
Dernière modification de la notice
20/08/2019 12:40
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