MEDizzy
MEDizzy
harshavardhan_patil
harshavardhan_patilover 1 year ago
X-Chromosomal Translocation and Segmental Hypopigmentation

X-Chromosomal Translocation and Segmental Hypopigmentation

A Hispanic girl who had been born at term to healthy nonconsanguineous parents was affected by brachycephaly, developmental delay, a mild cognitive deficit, and behavioral disturbances. Cytogenetic testing revealed an apparently balanced translocation between an X chromosome and a chromosome 2 (breakpoints, Xp11.2 and 2q35). When the girl was seen for dermatologic consultation at 8 years of age, we observed hypopigmentation streaks in a wavy pattern on the trunk (Panel A) and a linear pattern on the limbs (Panel B). Lines of Blaschko, believed to be the expression of clones of abnormal cells migrating toward the periphery during embryonic life, are visualized in a wide variety of genodermatoses. An enormous range of cytogenetic abnormalities can cause pigmentary mosaicism. In particular, Blaschkolinear hypopigmentation (also called hypomelanosis of Ito) is typically linked to translocations between an X chromosome (loci Xp11.21 and Xp11.22) and an autosome.

45
Other commentsSign in to post comments. You don't have an account? Sign up now!

Recent MCQs















Show more MCQs

Recent flashcard sets















Show more flashcards