Taxon:

Human

Gene:

"UPD"

Chromosome:

X

Location:

Description:

Quan F et al (1997) report a case of Duchenne muscular dystrophy (DMD) due to maternal uniparental isodisomy of the X chromosome.

Exclusive paternal X chromosomes were identified in a girl with short stature (Schinzel AA et al 1993).
Papenhausen P et al (2011) report a case of paternal UPD of the X chromosome. The proband was phenotypically normal apart from recurrent miscarriages.
Rio M et al (2002) report a case of paternal UPD of the X chromosome where the proband had mild mental retardation, short stature and hypotonia.
A boy with haemophilia A was discovered to have received both X and Y chromosomes from his father (who also had haemophilia A) (Vivaud D et al, Am J Hum Genet 1989, volume 45, abstract 889).
A second case of father-to-son transmission of both X and Y chromosomes was reported by Ferrier et al (2009). The proband and his father had hypohidrotic ectodermal dysplasia (HED).

Category:

Disomy (UPD)

Record:

61

Last Modified 1/27/2017

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