ArticleJournal of medical genetics1994
Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.Frontiers in genetics · 2024Article
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
- Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.Orphanet journal of rare diseases · 2019Article
- Pigmentary mosaicism: a review of original literature and recommendations for future handling.Orphanet journal of rare diseases · 2018Review
- Detection of structural mosaicism from targeted and whole-genome sequencing data.Genome research · 2017Article
- Mosaic trisomy 8 detected by fibroblasts cultured of skin.Colombia medica (Cali, Colombia) · 2016Article
- Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.European journal of pediatrics · 2013Article
- Somatic genome variations in health and disease.Current genomics · 2010Article
- Piecing together the problems in diagnosing low-level chromosomal mosaicism.Genome medicine · 2010Article
- Pathogenesis of vestibular schwannoma in ring chromosome 22.BMC medical genetics · 2009Article
- Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.European journal of human genetics : EJHG · 2009Article
- "Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?Journal of medical genetics · 1997Article
- A partial hydatidiform mole with 2N/3N mosaicism identified by molecular analysis.Journal of assisted reproduction and genetics · 1996Article
- Cephalometric skeletal evaluation of patients with Incontinentia Pigmenti.Journal of oral biology and craniofacial researchArticle
- Unilateral Syndactyly, Hemihypertrophy, and Hyperpigmentation with Mosaic 2q35 Deletion.Indian journal of dermatologyArticle
- Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.Sao Paulo medical journal = Revista paulista de medicinaArticle
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 abnormal cell lines found were ring chromosome 22, trisomy 22, a large acrocentric marker, a deletion of 18q, a deletion of 8q, and triploidy. In four cases the clinical diagnosis was only confirmed by skin biopsy. In one case low level mosaicism in blood was fortuitously detected because of cytogenetic fragile X screening and confirmed in a skin biopsy. The sixth case was of dynamic mosaicism of a non-mosaic deletion 18q with a chromosome 18 derived marker present in a proportion of cells. Chromosome mosaicisn may cause subtle and asymmetrical clinical features and can require repeated cytogenetic investigations. The diagnosis should be actively sought as it enables accurate genetic counselling to be given.
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