Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus
- 1 January 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (1) , 101-104
- https://doi.org/10.1002/ajmg.1320450124
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.).Keywords
This publication has 29 references indexed in Scilit:
- XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardationClinical Genetics, 1991
- Long-range physical mapping around the human steroid sulfatase locusGenomics, 1990
- A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a maleAmerican Journal of Medical Genetics, 1990
- The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosomeNature, 1989
- Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pterArchives of Dermatology, 1985
- Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomalNature, 1985
- Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomesNature, 1985
- Characterization of the human factor VIII geneNature, 1984
- Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X ChromosomeNew England Journal of Medicine, 1984
- A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardationClinical Genetics, 1983