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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.
Hit K,Goswami,Nirhhay Shrivastava,Shiv Kumar Gopal,Sanjay Sharna,Manoj Chandorkar,In Hwan Lee,Sung Ik Chang 대한의학유전학회 1997 대한의학유전학회지 Vol.1 No.1
A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm and without orthopedic or haematological complications. Repeated lymphocyte cultures showed somatic pairing (mostly chromosome pair 5), end to end association involving chromosome 14, 21, 21 and 16, and satellite enlargement in a high proportion of cells with an otherwise normal 46,XY karyotype. These observations are compared with 13 other types of orthopaedic patients, and we opine that cumulative picture of chromosomal aberrations appears to correspond with the present rare anomaly "Mono Ostolic Osteolysis" involving right ulna. None of the controls or any other orthopaedic anomaly studied hereunder exhibits this chromosomal picture.
Goswami, Hit K.,Shrivastava, Nirhhay,Gopal, Shiv Kumar,Sharna, Sanjay,Chandorkar, Manoj,Lee, In-Hwan,Chang, Sung-Ik Korean Society of Medical Genetics 1997 대한의학유전학회지 Vol.1 No.1
A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm and without orthopedic or haematological complications. Repeated lymphocyte cultures showed somatic pairing (mostly chromosome pair 5), end to end association involving chromosome 14, 21, 21 and 16, and satellite enlargement in a high proportion of cells with an otherwise normal 46,XY karyotype. These observations are compared with 13 other types of orthopaedic patients, and we opine that cumulative picture of chromosomal aberrations appears to correspond with the present rare anomaly "Mono Ostolic Osteolysis" involving right ulna. None of the controls or any other orthopaedic anomaly studied hereunder exhibits this chromosomal picture.
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.
On Generalized ø-Recurrent LP-Sasakian Manifolds
Jaiswal, Jai Prakash,Ojha, Ram Hit Department of Mathematics 2009 Kyungpook mathematical journal Vol.49 No.4
In this paper we studied generalized ${\phi}$-recurrent and generalized concircular ${\phi}$-recurrent LP-Sasakian manifolds.