Total: 2 |
|
PMID (PMCID) | ||
---|---|---|
3876068 |
MIXED_SAMPLE | Infant |
Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. | ||
de Grouchy J, Turleau C, Doussau de Bazignan M, Maroteaux P, Thibaud D. Ann Genet. 1985;28(2):86-9. |
||
A 45,X/46,X,r(X) mosaicism was observed in an incontinentia pigmenti (Bloch-Sulzberger form) female patient, with mental retardation, short stature, and minor dysmorphisms. | ||
553451 |
FEMALE | Child |
Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report. | ||
Hamada K, Tanaka T, Ohdo S, Hayakawa K, Kikuchi I, Katsuya H. Brain Dev. 1979;1(4):313-7. |
||
A case of incontinentia pigmenti achromians associated with mental retardation, epilepsy, short stature and ocular anomalies was reported. |