Chromosome mosaicism in hypomelanosis of Ito

Ritter, Catherine L.; Steele, Mark W.; Wenger, Sharon L.; Cohen, Bernard A.

doi:10.1002/ajmg.1320350104

Cited by 97 publications

(63 citation statements)

References 38 publications

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“…It is commonly found to be caused by chromosomal mosaicism. Chromosomes involved have included trisomy 18 mosaicism [Grazia et al, 1993;Chitayat, 1990], structural mosaicism for 19p deletion [Bocian et al, 1993], diploid/triploid mosaicism [Donnai et al, 1986], partial trisomy 10 mosaicism [Boon et al, 1996], trisomy 13 mosaicism [Pillay et al, 1998], functional disomy of Xp [Fritz, 1998], ring 22 mosaicism [Ritter et al, 1990], trisomy 22 mosaicism [Crowe et al, 1997], X/autosomal translocation mosaicism, ring 10 mosaicism, 45X/46X+ ring mosaicism, 13q11 deletion mosaicism, mosaic tetrasomy 12p, balanced 15/22 translocation [Sybert et al, 1990], translocation 7/15 unbalanced mosaicism [Pellegrino et al, 1995], and many others. Thus, it seems reasonable to extrapolate that mosaicism for any chromosome abnormality may be associated with Blaschkolinear pigment dysplasia.…”

Section: Discussionmentioning

confidence: 99%

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

et al. 1999

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Results of repeated peripheral blood chromosome studies were normal in a boy with intrauterine growth retardation, short stature, moderate mental retardation, and multiple minor anomalies. At age 9 years it was recognized that the swirls of pigmentation/depigmentation on his trunk, linear streaks on his limbs, and body asymmetry were suggestive of chromosomal mosaicism. Four skin biopsies were obtained under anesthesia during a dental procedure. All showed mosaicism for a normal cell line, a line with an extra chromosome 7, and a cell line with an extra small ring. In one biopsy, there was a fourth cell line with an extra chromosome 7 and the ring. Fluorescence in situ hybridization (FISH) with a chromosome 7 paint confirmed trisomy 7 and the chromosome 7 derivation of the ring. This young man's intra-uterine and postnatal growth retardation is an aneuploidy effect, whereas his asymmetry reflects a mosaicism effect that should have aroused suspicion of tissue-limited mosaicism before the development of obvious Blaschkolinear skin pigmentary dysplasia.

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Section: Discussionmentioning

confidence: 99%

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

et al. 1999

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“…This criterion excludes all skin lesions that do not represent a mosaic. The underlying mechanism may be either func tional mosaicism resulting from the Lyon effect of X-inactivation or genomic mosaicism resulting from a somatic mutation or a gametic half-chromatid mutation [24], For example, in lesions of pigmentary disturbance that follow the lines of Blaschko and therefore can undoubtedly be cat egorized as nevi, cytogenetic analysis has revealed mosai cism for various chromosomal anomalies [12,13,15,16,26,27]. In the McCune-Albright syndrome, a sporadic trait characterized by a peculiar systematized pigmentary nevus in the form of broad bands following the lines of Blaschko.…”

Section: A Proposed New Definitionmentioning

confidence: 99%

What is a Nevus

Happle

1995

Dermatology

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From the study of standard textbooks of dermatology, no comprehensive understanding of the word nevus can be derived. The purpose of this article is to formulate a workable definition. As a first step, various definitions proposed by previous authors are reviewed. Their inconsistency appears to be mainly due to the fact that the term nevus is used to denote both neoplastic and nonneoplastic, congenital and acquired as well as hereditary and nonhereditary skin lesions. Taking this difficulty into account, the author suggests, as a unifying concept, the new category of genetic mosaicism. The following definition is proposed: ‘Nevi are visible, circumscribed, long-lasting lesions of the skin or the neighboring mucosa, reflecting genetic mosaicism. With the exception of melanocytic nevi, they do not show neoplastic growth. They never show malignant neoplasia.’ -For several types of nevi the concept of genetic mosaicism has already been confirmed at the cellular level. Future cytogenetic and molecular studies should show whether the proposed definition is valid for all other types of nevi and thus generally acceptable.

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“…Most patients were mosaic for aneuploidy or unbalanced translocations, with two or more chromosomally distinct cell lines either within the same tissue or between tissues. 28 Karyotyping of blood and, if necessary skin, to detect mosaicism is therefore warranted in all patients presenting with unexplained swirly pigmentary changes, as this appears to be a nonspecific clinical marker for chromosomal mosaicism, 29 particularly if an undiagnosed multiple congenital anomaly syndrome and developmental impairment are present as well.…”

Section: Discussionmentioning

confidence: 99%