Incontinentia pigmenti in a male infant with Klinefelter syndrome.
Incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-linked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47,XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.
Prendiville
J S
JS
Department of Pediatrics, Northwestern University Medical School and Children's Memorial Hospital, Chicago, IL 60614.
Gorski
J L
JL
Stein
C K
CK
Esterly
N B
NB
D008040:Genetic Linkage; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications / Q000235:genetics*; D007223:Infant; D007713:Klinefelter Syndrome / Q000150:complications* / Q000175:diagnosis; D008297:Male; D010859:Pigmentation Disorders / Q000235:genetics*; D014960:X Chromosome