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Refinement of the locus for X-linked recessive chondrodysplasia punctata

Although the locus for X-linked recessive chondrodysplasia punctata (CDPX1) has been mapped to the region between PABX and DXS31 (the critical region is about 3 Mb long), the precise location within the critical region has not been determined. In this paper, we describe a boy with a 46,Y,der(X)t(X;Y...

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Hauptverfasser: Muroya, Koji (VerfasserIn) , Ogata, Tsutomu (VerfasserIn) , Rappold, Gudrun (VerfasserIn) , Klink, Albrecht (VerfasserIn) , Nakahori, Yutaka (VerfasserIn) , Fukushima, Yoshimitsu (VerfasserIn) , Aizu, Katsuya (VerfasserIn) , Matsuo, Nobutake (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: May 1995
In: Human genetics
Year: 1995, Jahrgang: 95, Heft: 5, Pages: 577-580
ISSN:1432-1203
DOI:10.1007/BF00223874
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/BF00223874
Volltext
Verfasserangaben:Koji Muroya, Tsutomu Ogata, Gudrun Rappold, Albrecht Klink, Yutaka Nakahori, Yoshimitsu Fukushima, Katsuya Aizu, Nobutake Matsuo
Beschreibung
Zusammenfassung:Although the locus for X-linked recessive chondrodysplasia punctata (CDPX1) has been mapped to the region between PABX and DXS31 (the critical region is about 3 Mb long), the precise location within the critical region has not been determined. In this paper, we describe a boy with a 46,Y,der(X)t(X;Y)(p22.3;q11)mat karyotype and review the genotype-phenotype correlations in three male patients with the combination of apparent lack of clinical features of CDPX1 and a partial deletion of the critical region. The results suggest that the region defined by the two BssHII sites at 3180 and 3570 kb from the Xp telomere may be the target region for the CDPX1 locus.
Beschreibung:Gesehen am 30.03.2021
Beschreibung:Online Resource
ISSN:1432-1203
DOI:10.1007/BF00223874

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