Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
نویسندگان
چکیده
منابع مشابه
Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
We report six persons mosaic for a chromosome anomaly. All were mentally retarded and dysmorphic. Unilateral or asymmetrical features were found in all cases, in one an unusual transverse terminal limb anomaly, and in the others various degrees of hemiatrophy of the left side of the body. Five of the subjects had skin pigmentary anomalies which were distributed in the lines of Blaschko. The abn...
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We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a ...
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Tetraploid-diploid mosaicism in humans is exceedingly rare. We present an 11-year-old boy with tetraploid-diploid mosaicism and coexistent hair hypopigmentation with skin hypo- and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.
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Pigmentary mosaicisms are nevoid diseases characterized by the presence on the skin of hyperor hypopigmented macules with particular clinical patterns. Occasionally they show association with extracutaneous defects that may alter the normal development of the affected person. We present a compilation of all the cases of pigmentary mosaicism evaluated at our Department in the past decade (Dermat...
متن کاملHypomelanosis of Ito-A Case of Pigmentary Mosaicism Associated with Partial Trisomy of Chromosome 20
Introduction: Hypomelanosis of Ito is characterized by hypopigmentation along the lines of Blaschko, evident at birth or during childhood, in combination with variable extra cutaneous findings, mainly affecting the central nervous system, musculoskeletal system and eyes. Most common lyis caused by chromosomal mosaicism associated with a variety of changes in structure or number of autosomes or ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1994
ISSN: 1468-6244
DOI: 10.1136/jmg.31.9.694