Gonadal mosaicism for incontinentia pigmenti in a healthy male.
Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY normal male karyotype. Linkage analysis of 12 polymorphic markers (two X linked and 10 autosomal) confirms paternity. X inactivation studies with the human androgen receptor (HUMARA) indicate that the paternal X chromosome is inactivated preferentially in each girl, implying that this chromosome carries the IP mutation, and that the father is a gonadal mosaic for the IP mutation.
Kirchman
T T
TT
Department of Dermatology, Stanford University Medical Center, California 94304, USA.
Levy
M L
ML
Lewis
R A
RA
Kanzler
M H
MH
Nelson
D L
DL
Scheuerle
A E
AE
D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D004303:Dosage Compensation, Genetic; D005260:Female; D005799:Genes, Dominant; D005804:Genes, Lethal; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D013094:Spermatozoa / Q000648:ultrastructure; D014960:X Chromosome / Q000235:genetics*