Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
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منابع مشابه
Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
Pigmentary mosaicism of Ito (PMI) is a skin abnormality often characterized by hypopigmentation of skin, following, in most cases, the Blaschko lines, usually associated with extracutaneous abnormalities, especially abnormalities of the central nervous system (CNS). It is suggested that this pattern arises from the presence and migration of two cell lineages in the ectoderm layer during the emb...
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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In this report we describe the case of an 11-year-old male with autism and mental retardation, presenting a tetrasomy of chromosome 3q. Cytogenetic analysis showed a mosaic for an unbalanced karyotype consisting of mos46,XY,add(12)(p13.3)(56)/46,XY(45). FISH using WCP and subtelomeric probes identified the extra material on 12p to be an inverted duplication of the distal segment of chromosome 3...
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The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confir...
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Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; ther...
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2016
ISSN: 1415-4757
DOI: 10.1590/1678-4685-gmb-2015-0033