Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)
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چکیده
منابع مشابه
Graft-versus-host disease presenting along Blaschko lines: cutaneous mosaicism.
To the Editor: Graft-versus-host disease (GVHD) is a common and serious complication seen most often with bone marrow transplantation and peripheral blood stem cell transplantation. With these therapies, functional lymphoid cells are transferred from an immunocompetent donor into a nongenetically identical recipient, or “host.” Because of the allogeneic nature of these transplants, the transpla...
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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...
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Morphological abnormalities of the X chromosome are well documented and have been extensively reviewed and discussed by Ferguson-Smith (1965). They include isochromosome of the long arm, deletions of the long and short arms, ring chromosomes, and chromosomal fragments. Other types of abnormality are rare. Engel and Forbes (1965) described a chromatin negative girl (Patient No. 27) with a mosaic...
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Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
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Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosa...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2005
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.30876