Treatment with methylglyoxal bis(guanylhydrazone), a specific inhibitor of S-adenosylmethionine decarboxylase (EC 4.1.1.
View Article and Find Full Text PDFAn 8-month-old female child with the 9p- karyotype: 46,XX,del(9) (p22) is presented, being the first case from among Oriental people. She has many clinical features similar to those described in Caucasian cases.
View Article and Find Full Text PDFA method of screening for autosomal aberrations is important as an indication for chromosome analysis such as that used in sex-chromatin examination for sex chromosome aberrations. In our clinic, malformed patients with mental retardation and abnormal dermatoglyphic patterns are strong suspects for autosomal aberrations. Abnormal dermatoglyphic patterns are separated into two categories: (1) Absolutely abnormal--radial loop of 1st finger, radial loop of 4th finger, radial loop of 5th finger, arch over 6 fingers, arch tibial, loop tibial, and arch fibular; (2) Borderline abnormalities--high axial triradius (t' and t"), simian crease, interdigital loop, and single crease of 5th finger.
View Article and Find Full Text PDFThe mean maternal age and the percentage age distribution of 2,650 mothers of children with Down syndrome were calculated for 1950-1973, from hospital records. Mean maternal age had dropped both for controls (28.55 leads to 27.
View Article and Find Full Text PDFA case report on an infant with trisomy of the long arm of chromosome No. 3 is presented. The condition has not been described previously.
View Article and Find Full Text PDFA very large (giant) satellite was observed on one of the D-group chromosomes of a malformed and mentally retarded infant and her father. Detailed cytogenetic studies revealed that the giant satellite represented, in fact, a der(15) chromosome of translocation t(6;15)(p21;p12 or 13). The proposita was trisomic for a part of 6p(6pter leads to 6p21).
View Article and Find Full Text PDFTwo cases of 8p trisomy in one sibship are presented. The father was a balanced carrier of a translocation rcp (8;13) (p11; q34). Case 1 was a 2-year -old boy with multiple minor anomalies and severe mental retardation.
View Article and Find Full Text PDFThree translocations each involving C or G chromosomes are reported. A familial translocation t(Cq+; Eq−) was identified to be rcp(6;18) (q2;q1) and two malformed children were then found to have a 46,XY(or XX),−6, +der(6) constitution. One of the carrier's pregnancy in this family was monitored by amniocentesis and a fetus was identified as being a male translocation carrier (balanced).
View Article and Find Full Text PDFNihon Shonika Gakkai Zasshi
January 1970