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Biomedical subjects

D R Romain

Publications and source records attributed to D R Romain.

24 records · Page 2Linked to original sources
PubMed1983

Two cases of ring chromosome 11.

Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15 X 4q2 X 5). In case 2, a Wilm's tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding demonstrated minimal chromosome deletion and the karyotype was considered to be 46,XY,r(11) (p15q25).

Abnormalities, Multiple↗
PubMed1983

Partial trisomy 14q24 leads to qter.

A newborn male with partial trisomy for the distal part of the long arm of chromosome 14 (14q24 leads to qter) is described. The anomaly arose as an adjacent 1 meiotic segregation product from a balanced translocation t(11;14) (q25;q24) in the mother (figure). To our knowledge only one previous case involving the same segment has been reported. The karyotype was confirmed as 46,XY,der(11),t(11;14)(q25;q24) mat.

Chromosomes, Human, 13-15↗
PubMed1982

Cd branding studies in a homologous Robertsonian 13;13 translocation.

A phenotypically normal female with a history of two miscarriages was found to have the karyotype 45,XX,t(13p:13p). C banding showed the translocation to have two regions of centromeric constitutive heterochromatin, silver staining showed an active NOR in 60% of the cells screened, and Cd banding studies showed a single Cd band with absence of the Cd band at the suppressed centromere.

Chromosome Banding↗
PubMed1979

Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture.

The identification is reported of an extra bisatellited metacentric microchromosome in amniotic cell culture from the third pregnancy of an identical twin (amniocentesis being performed because of age), and its subsequent finding in the maternal parent as an inherited familial marker. The carriers of the microchromosome are all clinically normal and the parents opted for continuation of pregnancy. Only one other report was found in the literature of a similar microchromosome detected in amniotic fluid culture, but we believe ours to be the first bisatellited microchromosome to be clearly identified from an amniotic cell culture using silver staining.

Adult↗