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RISS 인기검색어
- 검색키워드
- 저자 : Subodh Varshney (검색결과 2 건)
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Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination
Goswami, Hit K.,Rangnekar, Aruna G.,Sharma, Sandeep,Varshney, Subodh,Lee, In-Hwan,Chang, Sung-Ik Korean Society of Medical Genetics 1998 대한의학유전학회지 Vol.2 No.1
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 ($42{\pm}1$) and hyperploid ($48{\pm}2$ 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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Hemihypertrophy with hypomelanosls of Ito
Hit K. Goswami,Aruna G. Rangnekar,Sandeep Sharma,Subodh Varshney,In Hwan Lee,Sung Ik Chang 대한의학유전학회 1998 대한의학유전학회지 Vol.2 No.1
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 mole 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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