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
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
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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