D. V. Zaletajev

Academy of Medical Sciences

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Iosif W. Lurie

Institute for Advanced Journalism Studies

D. B. Gurevich

University of Maryland, Baltimore

G S Marincheva

Federal Medical Research Centre for Psychiatry and Narcology

L. B. Gorelik

I. A. Kirillova

Volgograd State Academy of Physical Culture

G. I. Lazjuk

Belarusian State Medical University

N.V. RUMYANTSEVA

I. A. Korotkova

Helena G. Ilyina

University of Maryland, Baltimore

Lubov Podleschuk

Cooperative Institutions

University of Maryland, Baltimore

Hôpital Necker-Enfants Malades

Research Institute of Medical Genetics of Russian Academy of Medical Sciences

Volgograd State Academy of Physical Culture

Novosibirsk Scientific Research Institute of Traumatology and Orthopedics. Ya.L. Tsivyan

Hôpital Arnaud de Villeneuve

Belarusian State Medical University

Federal Medical Research Centre for Psychiatry and Narcology

Ministry of Health of the Russian Federation

Nikiforov Russian Center of Emergency and Radiation Medicine

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Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8

Human Genetics (1983)

D. V. Zaletajev G S Marincheva

Long arm

Human genetics

10.1007/bf00291541

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Citations (14)

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

Clinical Genetics (1985)

G. I. Lazjuk Iosif W. Lurie I. A. Kirillova D. V. Zaletajev D. B. Gurevich

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.

Monosomy

Trisomy

Agenesis

Renal dysplasia

Clinodactyly

Renal agenesis

10.1111/j.1399-0004.1985.tb00371.x

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Citations (24)

De novo translocation involving chromosomes 2, 8, and 20.

Journal of Medical Genetics (1984)

D. V. Zaletajev G S Marincheva T. G. Tsvetkova

10.1136/jmg.21.3.231

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Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis

American Journal of Medical Genetics (1990)

Iosif W. Lurie Helena G. Ilyina Lubov Podleschuk L. B. Gorelik D. V. Zaletajev

At least nine cases of holoprosencephaly (HPE) found in patients with confirmed loss of 7q34----7qter or 7q36----7qter have been reported in the literature. In the present report, balanced rearrangements involving chromosome 7q [inv(7)(p22.1q34) and t(4;7)(q31;q36)] were shown in two mothers examined after the birth of their non-karyotyped infants with HPE and hydronephrosis. In both cases, del(7q) was the most probable imbalance. The available data confirm the association between HPE and del(7q). Predominance of cyclopia and cebocephaly, the severest forms of HPE, suggests that del(7q) may be an important factor in arresting prosencephalon development at the earliest stages.

Cyclopia

10.1002/ajmg.1320350229

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Citations (27)

Trisomy 20p: case report and genetic review.

PubMed (1985)

Iosif W. Lurie N.V. RUMYANTSEVA D. V. Zaletajev D. B. Gurevich I. A. Korotkova

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.

Trisomy

Partial Trisomy

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Citations (19)