CD is a rare skeletal dysplasia resulting from either autosomal dominant inheritance or gonadal mosaicism
. Mutations in the SOX9 gene located at 17q24-q25 locus have been implicated in the etiology of CD and have shown an association with both CD and sex reversal.
In families with history of an affected child, molecular prenatal diagnosis can be offered to rule out the empiric risk of gonadal mosaicism
. Genetic counseling for the parents is important for timely prenatal diagnosis.
Cornelia de Lange syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism
of NIPBL gene mutation.
Some acquire through a process called gonadal mosaicism
. TSC is caused by defects or mutations in one/two of the two genes- TSC1 and TSC-2.
Historically, the term hermaphrodite has been used to describe ambiguous genitalia and gonadal mosaicism
in human beings.
is thought to be responsible for reports of patients with localized disease having children with generalized NF.3 Most of the SNF cases do not have a family history of NF.2 Ruggieri and Huson in 2001 proposed to use the term mosaic localized NF type 1 instead of NF type 5, because of the present understanding of the molecular and genetic aspects of NF.6 While there is a consensus statement concerning the minimum diagnostic criteria for NF type 1, there is no strict criteria for the diagnosis of SNF although several definitions have been proposed.
Somatic and gonadal mosaicism
in Hutchinson-Gilford progeria.
X/XY gonadal mosaicism
, has been shown to play a role in disorders of sexual differentiation.