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KMID : 1189119980020010001
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대한의학유전학회지
1998 Volume.2 No. 1 p.1 ~ p.6
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Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination
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Goswami Hit K
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Abstract
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A female hemihypertrophy patient with hypomelanosis of Ito is presented as a rare case combining classical features of both the syndrome. Chromosomal profile has been based on longitudinal study of repeated lymphocyte cultures during 1984-1992. The propositus has exhibited chromosomal mosaicism both hypoploid (42+/-1) and hyperploid (48+/-2 chromosome) counts, but the major stem line presented 46XX chromosomes. Ring chromosome with simple and complex translocations with marker dots appear to be the major cytogenetic assemblage of this child to posses unequal left and right halves of the body. Each and every organ from toe to the head has grown up unequally and lately the patient had been exhibiting different dark and light shapes of melanin on the skin. We believe that the patient had inherited, through her male parent, "a few" mutated loci on some chromosomes so as to generate different cell lines within the developing child. All sibs and the mother showed normal karyotype with no apparent aberration.
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KEYWORD
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Hemihypertrophy with melanosis of Ito, Chromosomal mosaicism, , ring chromosome, Marker dot, New syndrome combination
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