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Am J Med Genet. 1993 Jan 1;45(1):101-4.

Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.

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1
Laboratory of Human Molecular Genetics, Imperial Cancer Research Fund, London, United Kingdom.

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.).

PMID:
8418639
DOI:
10.1002/ajmg.1320450124
[Indexed for MEDLINE]
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