Bazex-Dupre-Christol syndrome is an X-linked dominant
condition in which affected individuals can present with multiple trichoepitheliomas, as well as milia, hypotrichosis, follicular atrophoderma, and basal cell carcinomas.
In the study of genetic disorders, four general patterns of inheritance are distinguishable by pedigree analysis: autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant
This rare syndrome has been reported in approximately 100 patients and is thought to be inherited in an autosomal dominant or possibly x-linked dominant
Incontinentia pigmenti (IP) is a rare X-linked dominant
neurocutaneous syndrome with a prevalence of 0.7/100,000 live birth and ophthalmologic, neurologic, cutaneous, and dental manifestations [1, 2].
HR (XLDHR, MIM 307800) is the most common type of HR with an incidence of approximately 1 in 20000 live births and is caused by inactivating mutations of PHEX (phosphate regulating gene with homologies to endopeptidases on the X chromosome, MIM 307800) (55,67).
With reference to genotype on a single locus, there are twenty five different parent unions possible in nuclear pedigrees, six for each of autosomal dominant, autosomal recessive, X-linked dominant
, X-linked recessive (6+6+6+6 = 24) and one for Y-linked inheritance pattern.
Clinical, electrophysiological and connexin 32 gene mutation analysis with X-linked dominant
Charcot-Marie Tooth disease.
Rett syndrome (RTT) is an X-linked dominant
neurodevelopmental disorder which is primarily seen in girls.
The thoracoabdominal syndrome (tas): a new X-linked dominant
XLH is the most common heritable form of rickets (the softening and weakening of bones) that is inherited as an X-linked dominant
trait affecting both males and females.
It generally has an autosomal dominant inheritance, but autosomal recessive and X-linked dominant
inheritance have also been reported (4, 6).
IP is transmitted in an X-linked dominant
manner and occurs predominandy in females; it is often lethal in males.