Biomedical subjects

D B Gurevich

Publications and source records attributed to D B Gurevich.

8 recordsLinked to original sources

PubMed1986

Trisomy for the distal part of the short arm of chromosome 3.

A new case is presented of partial trisomy 3p in a one-year-old mentally retarded female infant with characteristic craniofacial dysmorphism and rare-faction of the stroma of the iris. The partial trisomy resulted from paternal balanced translocation t(3;6)(p25;p25). A review of the literature revealed that 1. both sexes are equally affected; 2. holoprosencephaly, found in 4 of 45 cases, may be considered the major and most severe anomaly of this syndrome; 3. the life-span of partial trisomy 3p is shorter than generally believed as most patients with severe malformations probably die before karyotype studies are initiated.

Abnormalities, Multiple↗

PubMed1985

Partial trisomy 5q and partial monosomy 5q within the same family.

The observation of partial trisomy for 5q31-5qter and partial monosomy for the same segment in two offspring within the same family is presented. Their normal mother was a balanced carrier of a reciprocal translocation 46,XX,t(5;10) (q31.3;q26). The trisomic female had craniofacial dysplasia, a short neck, clinodactyly of the 5th fingers, a small umbilical hernia, arhinencephalia, cerebellar hypoplasia, atrial septal defect, an accessory spleen, bifid uterus and vagina, hypoplastic ovaries. Potter syndrome with cystic dysplasia of the left kidney and agenesis of the right, urethral atresia, uterus unicornus with utero-urethral fistula, true hermaphroditism with two ovaries and one testicle were found in her stillborn sister. Analysis of the manifestations of monosomy 5q and trisomy 5q in the same family supports a well known fact that the effects of deletions are more pronounced than those of duplications for the same segments.

Abnormalities, Multiple↗

PubMed1985

Trisomy 20p: case report and genetic review.

Partial trisomy for the distal part of the short arm of chromosome 20 reported in a girl aged 11/2 years with typical craniofacial dysmorphies and psychomotor retardation. The trisomy resulted from a paternal translocation t(14;20) (q32.3;p11.1). The review of 25 cases of partial trisomy 20p showed that most cases (22 : 25) were due to parental translocations. Predominant involvement of small chromosomes in translocations with chromosome 20 was also detected.

Abnormalities, Multiple↗

PubMed1979

Partial trisomy 11q as the result of sporadic translocation.

Partial trisomy 11q due to a sporadic translocation was found in a mentally retarded girl with multiple abnormalities. The proportion of sporadic translocations involved in the total incidence of partial trisomies is discussed.

Abnormalities, Multiple↗

PubMed1979

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat.

An additional small G-like chromosome was found in a newborn female with multiple abnormalities and hemorrhagic diathesis. G banding showed that the index patient was trisomic for the short arm of chromosome 8 and revealed the anomaly t(8;15)(q12;p11) in her mother. The relationship between chromosome 8 and multiple hemorrhages is discussed.

Abnormalities, Multiple↗

PubMed1978

Partial trisomy 10p in two generations.

Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.

Adult↗

PubMed1976

Genetics of the +p9 syndrome.

An analysis of data about the +p9 syndrome revealed that this clinical entity may occur in some different genetic forms. The recurrence risk in cases with familial translocations is due to the type of meiotic segregation, 2:2 or 3:1. It was shown a nonrandomness of involvement of chromosomes 15 and 22 in translocations with chromosome number 9.

Abortion, Spontaneous↗

PubMed1975

[Genetic counseling in cases of chromosome insertions].

The principles of the estimation of the risk of repeated birth of malformed child and spontaneous abortion in families of balanced carriers of insertions are presented. A risk for a carrier is formed from two parts: a risk for a carrier of reciprocal translocation and a risk for a carrier of insertion of the came length as inseried segment. The first component of the risk is a constant, the latter one is a variable. It depends on the length of the inserted segment, the type of its inclusion (direct or inverted) and sites of break points. An estimation of the risk in hypothetical insertion 46, XX, inv ins (4; 2) (q24; q22q34) is described as a model. The same method of counselling may be used for the families with triple translocations t(a-, b-, c+) with "insertion" of fragment of chromosome "a" between the parts of "b" and "c" chromosomes. A tentative empirical mean value of repeated birth of malformed child and spontaneous abortion in families with insertions is 29% and 45% for the female carrier, and about 37% and 25% for the male carrier.

Abortion, Spontaneous↗