Toshifumi Takabayashi

A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p

This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly‐like vertebral defects, finger anomalies, a simian line on the left hand, talipes equinovarus, deep plantar furrows, abnormally high values of alkali phosphatase and lactate dehydrogenase, mild anemia and psychomotor retardation. Comparing the present case with previously reported cases of a single deletion on chromosome 14q or chromosome 20p, the infant showed some symptomatic and dysmorphic features of both deletions.

A case of mosaic trisomy 14 due to an isochromosome, i(14q)

SummaryA malformed male infant showed a mosaic trisomy 14 with a karyotype of mos 46,XY/46,XY,−14,+i(14q). The mosaicism was found both in peripheral blood cultures and in lymphoblastoid cells transformed by EB virus infection. His clinical picture was compared with those of 5 previously reported cases of trisomy 14 mosaicism, and the following common phenotypic features were noted: growth retardation, psychomotor delay, narrow or asymmetrical palpebral fissures, broad nose, low-set and dysplastic ears, high-arched palate, micrognathia, short neck, congenital heart disease, and undescended testes.

Structural aberrations of metaphase derivative chromosomes from reciprocal translocations as revealed by scanning electron microscopy

Metaphase chromosomes from three reciprocal translocation carriers were examined by scanning electron microscopy. A gap was detected in one of the two derivative chromosomes in each carrier. The position of each gap was identical with that of the respective breakpoint of the derivative chromosome to which the longer chromosome fragment was translocated. The gap length resembled a midsize G-band. Our observations suggest that derivative chromosomes of reciprocal translocations involve aberrations of a high-ordered structure of chromatid fibers at the translocation sites.

Effects of a medicinal herbal liqueur, Yomeishu, on post-operative gynecological patients

We administered 20 ml of Yomeishu (YMS) twice a day before meals for 12 weeks to 50 post-operative patients in gynecology and then inquired into their subjective 20 symptoms (sense of fatigue, insomnia, headache and heavy headedness, appetite, stomach-ache, abdominal inflation, vertigo, lumbago, etc.) The YMS group showed a significant improvement on 14 items compared with the control group. On the whole, a great improvement was observed in the YMS group with serious subjective symptoms as well, and there were significant differences for general condition, sense of fatigue, and coldness in extremities.

Familial pericentric inversion incidentally detected at prenatal diagnosis

SummaryA case of familial heterozygous pericentric inversion of chromosome 1 [inv(1)(p13q23)] is presented. The inversion was incidentally detected in a fetus whose mother received prenatal chromosomal diagnosis due to her age (40 years old), and thereafter the same inversion was detected in the father whose phenotype was normal. No abnormalities were found in the phenotype of the newborn carrier. Semen analysis of the father revealed normal findings. The couple had no history of spontaneous abortion.

Paracentric inversion of chromosome 14: A case report

SummaryA new case of familial heterozygous paracentric inversion in the long arm of chromosome 14 [inv(14)(q22q32)] is presented. The rearrangement was first ascertained in a fetus examined due to advanced maternal age, and then detected in the father. The phenotypes of the newborn and the father were completely normal. The parents had no history of spontaneous abortion. With reference to previous reports, the risk of clinical abnormalities are discussed for both de novo and familial paracentric inversions of chromosome 14.

The Outcome of Pregnancy and Prenatal Chromosomal Diagnosis of Fetuses in Couples Including a Translocation Carrier

In order to evaluate the relation between chromosomal translocation and the outcome of pregnancy, 50 couples were examined. Subjects consisted of 35 couples that included a reciprocal translocation carrier; 13 included a Robertsonian translocation carrier and 2 included a carrier of a mosaic reciprocal translocation. The reasons for performing chromosomal examinations were mainly infertility and abnormality of neonates. The rates of miscarriages and neonatal abnormalities in prior pregnancies were significantly higher than the birth rate of morphologically normal newborns. The presence of a translocation is closely related to reproductive failure because of the chromosomal imbalance. However, prenatal chromosomal examination after the 15th gestational week in subsequent pregnancies revealed that almost half of the fetuses showed normal karyotypes and only 12.8 per cent of the fetuses showed a chromosomal imbalance. Many chromosomally imbalanced fetuses are spontaneously aborted before amniocentesis. The risk of chromosomal imbalance is relatively low in prenatal diagnosis, but partial trisomies of small rearrangements tend to be preserved.

Spontaneous and MMC induced SCE in lymphocytes from patients with cervical cancer.

The frequencies of spontaneous and mitomycin C (MMC) induced sister chromatid exchanges (SCEs) were investigated in lymphocytes of the peripheral blood of women in different stages (O-III) of cervical cancer. Average generation time (AGT) was also examined by the replicative index (R.I.) method. The following results were obtained: The spontaneous SCE frequency was found to be significantly higher in the cancer group than in the control group; 8.21 +/- 1.42 (mean +/- S.D.) against 5.62 +/- 0.55. The SCE frequency gradually increased with the progression of the cervical cancer. The SCE frequency in patients with carcinoma in situ (CIS), the lowest stage of cervical cancer, was significantly higher than that of the controls. The frequency of MMC induced SCE was higher than that of spontaneous SCE in all groups, and the difference in frequency between MMC induced and spontaneous SCEs of cervical cancer group of the stages I-III was significant by different from that of the control group. The AGT of the cervical cancer group was shorter than that of the control group, but it was not statistically significant.