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Biomedical subjects

T Motegi

Publications and source records attributed to T Motegi.

At least 37 records · Page 2Linked to original sources
PubMed1985

A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.

A tiny interstitial deletion of 7p was found in a 5-month-old boy with a craniosynostosis and many anomalies. His karyotype was 46,XY,del(7)(p15.3p21.3). Here we present not only further evidence of an association between craniosynostosis and 7p monosomy, but also deletion mapping to indicate that the critical segment for craniosynostosis lies in the mid-portion of 7p21, that is at 7p21.2 or the proximal part of 7p21.3.

Chromosome Banding↗
PubMed1984

A decreasing tendency for cytogenetic abnormality in peripheral lymphocytes of retinoblastoma patients with 13q14 deletion mosaicism.

A significant decrease in the proportion of 13q14-deleted cells over a 9-month period was observed in a boy with retinoblastoma and 13q14 deletion mosaicism. To evaluate whether this phenomenon is generally the case, the bloods of three retinoblastoma patients with 13q14 deletion mosaicism reported in 1981 and 1982 were reexamined. A significant decrease in the proportion of abnormal cells was observed in three of four patients including the present case, suggesting that a 13q14 deletion mosaicism might disappear with age in some individuals.

Age Factors↗
PubMed1983

A recognizable pattern of the midface of retinoblastoma patients with interstitial deletion of 13q.

In our study, we found a recognizable pattern of the midface in three retinoblastoma patients with interstitial deletion of chromosome 13 in lymphocytes. Further photographs of patients reported by other authors confirmed our conclusion that the midface in children with interstitial deletion of 13q from q12 to q22, always involving q14, is characterized by prominent eyebrows, broad nasal bridge, bulbous tip of the nose, a large mouth with a thin upper lip, and a long philtrum. This midface pattern could not be recognized in patients with normal karyotypes, suggesting that the critical segment for the midface phenotype as well as for retinoblastoma may exist in band 13q14.

Child, Preschool↗
PubMed1982

Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it.

In serial cytogenetic examinations of peripheral lymphocytes from retinoblastoma patients, we found a patient with sporadic bilateral retinoblastoma with a de novo mutation of a 13/18 translocation, with their respective breakpoints at 13q141 and 18q122. The simultaneous de novo occurrence of retinoblastoma and the chromosomal rearrangement involving 13q14 in the proband suggests that the gene locus for retinoblastoma is at 13q141, particularly at the distal portion of it. Deletion mapping data are compatible with this suggestion.

Chromosome Banding↗
PubMed1981

Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism.

The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(q14.1q14.3)/46,XX (the proportions of 13q14-cells, 51% and 9%, respectively), and the other with the karyotype 46,XY,del(13)(q14.1q21.2). All of these three cases had bilateral sporadic Rb. Two mosaic cases had an apparently normal phenotype except for Rb. These data suggest that the frequency of Rb cases with a 13q- cell line in lymphocytes may be greater than that which has been reported.

Chromosome Banding↗
PubMed1979

Short rib-polydactyly syndrome, Majewski type, in two male siblings.

Two male siblings with a short rib-polydactyly syndrome, Majewski type (Majewski syndrome), are reported. To our knowledge, the present report is the first one of siblings each confirmed to be affected by Majewski syndrome, and it may therefore contribute to establishing the mode of inheritance.

Abnormalities, Multiple↗
PubMed1978

18p-Mosaicism: case report and review.

The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. The proportions of abnormal cells are 7-8% in blood and 55% in skin. About 35% of the short arm of chromosome 18 is deleted. to our knowledge the present report is the fifth one of 18p-mosaic. The main interest of this case resides in the fact that it shows a serious clinical picture despite the low proportion of abnormal cells in blood and the small degree of deletion of the short arm of chromosome 18.

Chromosome Deletion↗
PubMed1977

Prepubertal XY gonadal dysgenesis.

Two children had prepubertal XY gonadal dysgenesis. A 7-year-old girl with clitoral enlargement had a left ovarian tumor that contained a dysgerminoma; the right gonad proved to be a gonadoblastoma. The second child (a 2-year-old girl) showed poor physical development and slight virilization of the genitalia. Her bilateral dysgenetic gonads were removed at exploratory laparotomy. The occurrence of gonadal tumors in XY gonadal dysgenesis is increased. It is probably related to the hypergonadotropinism existing from childhood as well as to genetic predisposition of the cryptorchid testis in the presence of a Y chromosome. Our first patient is one of the youngest who had XY gonadal dysgenesis iwth gonadoblastoma reported. The indication of prophylactic gonadectomy in XY gonadal dysgenesis is emphasized.

Child↗