D. B. Gurevich

University of Maryland, Baltimore

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Iosif W. Lurie

Institute for Advanced Journalism Studies

G. I. Lazjuk

Belarusian State Medical University

M. K. Nedzved

Yulia I. Usova

D. V. Zaletajev

Academy of Medical Sciences

Albert Schinzel

John Wiley & Sons (United States)

ИА

И. А. Швед

Belarusian Medical Academy of Post-Graduate Education

E. B. Presman

Franz Binkert

University of Zurich

G. I. Kravtzova

Cooperative Institutions

University of Maryland, Baltimore

University of Zurich

Hôpital Necker-Enfants Malades

Pediatrics and Genetics

Swiss Academy of Medical Sciences

Johns Hopkins University

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

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The Wolf‐Hirschhorn syndrome

Clinical Genetics (1980)

Iosif W. Lurie G. I. Lazjuk Y. I. Usaova E. B. Presman D. B. Gurevich

Four new cases of the Wolf‐Hirschhorn syndrome are presented, two of which were due to t(4;22)mat. Review of the literature (more than 100 cases of the Wolf‐Hirschhorn syndrome) showed that 13 % of all the reported cases were not mutations but segregations of parental chromosomal aberrations, primarily translocations. Similar data were obtained previously for other deletions (5p‐, 18p‐, 18q ‐). Analysis of data on some “new” deletion syndromes (4q ‐, 8p‐, 9p‐, 10p‐, 11p ‐, 11q ‐) revealed that 14.5% were inherited cases. Thus, all human autosomal deletions have virtually the same genetic pattern.

10.1111/j.1399-0004.1980.tb00167.x

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Citations (129)

Trisomy 17p11-pter

Clinical Dysmorphology (1995)

Iosif W. Lurie D. B. Gurevich Franz Binkert Albert Schinzel

Three patients and one fetus with almost complete trisomy 17p due to familial rearrangements are described. Two patients followed unbalanced transmission of a familial pericentric inversion, and one patient and one fetus were due to unbalanced segregation of familial translocations. In the inversion family, another two patients with multiple malformations had died before chromosome examination could be performed. The pattern of congenital anomalies as revealed from eleven cases of trisomy 17p11-pter include as the most prominent features: prenatal growth retardation, microcephaly, downslanting palpebral fissures, small mouth, small mandible, poorly shaped ears, short and webbed neck, genital hypoplasia, clinodactyly of fingers, crowding of toes, a high incidence of congenital heart defects and hernias. Postnatal survival is short mainly in patients with congenital heart defects. From the age of about 6 years onward, clinical findings become more distinct, with some signs of Charcot-Marie-Tooth neuropathy (pes cavus, adducted thumbs, dorsiflexed hallux, camptodactyly and limitation of movements in different joints), and the nose gets narrow and sharp, with hypoplastic alae.

Clinodactyly

Microcephaly

Polydactyly

Trisomy

10.1097/00019605-199501000-00003

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Citations (24)

Genetics of the +p9 syndrome

Human Genetics (1976)

Iosif W. Lurie G. I. Lazjuk D. B. Gurevich S. S. Usoev

Human genetics

Medical genetics

Metabolic disease

10.1007/bf00569973

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Citations (27)

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

Human Genetics (1979)

G. I. Lazjuk Iosif W. Lurie Yulia I. Usova D. B. Gurevich M. K. Nedzved

Trisomy

Metabolic disease

Human genetics

Chromosome 4

Chromosome 18

Diathesis

10.1007/bf00273318

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Citations (16)

Partial trisomy 11q as the result of sporadic translocation

Human Genetics (1979)

Iosif W. Lurie G. I. Lazjuk Yulia I. Usova D. B. Gurevich

Partial Trisomy

Trisomy

Human genetics

Metabolic disease

Mentally retarded

10.1007/bf00278293

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Citations (6)

Partial trisomy 10p in two generations

Human Genetics (1978)

Iosif W. Lurie G. I. Lazjuk D. B. Gurevich G. I. Kravtzova M. K. Nedzved

Partial Trisomy

Trisomy

Human genetics

10.1007/bf00273107

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Citations (22)

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)

Trisomy 2p: Analysis of unusual phenotypic findings

American Journal of Medical Genetics (1995)

Iosif W. Lurie Helena G. Ilyina D. B. Gurevich Natalja V. Rumyantseva Irena V. Naumchik

We present three probands with partial trisomies 2p21-23 due to ins(4;2)(q21;p21p23) pat, 2p23-pter due to t(2;4)(p23;q35)mat, and 2p21-pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non-karyotyped sibs. Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non-karyotyped sibs. The only triplicated segment common to all was 2p24. Different forms of "broncho-pulmonary a/hypoplasia" (including two cases of lung agenesis) were described in four patients (overlapping triplicated segment was 2p21-p25). Three patients (with overlapping triplicated segment 2p23-p25) had diaphragmatic hernia. Abnormal rotation of the heart or L-transposition of large vessels (with or without visceral heterotaxia) was found in two infants (overlapping triplicated segment 2p23-p24). In two patients with common triplicated segment 2p22.3-p25, neuroblastoma has been described. The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. Although the latter hypothesis is much less probable, it can not be rejected at the present time. We propose the existence of a genetic system controlling surveillance of an abnormal embryo to explain the phenotypic differences between patients with the same imbalance within a family. In some "restrictive" combinations the abnormal embryos will die, although in "permissive" combinations they can survive.

Breakpoint

Trisomy

Proband

Chromosomal region

Monosomy

10.1002/ajmg.1320550216

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Citations (70)

[Genetics of Patau's syndrome (an analysis of 59 families)].

PubMed (1984)

G I Laziuk I V Lur'e D. B. Gurevich

Trisomy

Robertsonian translocation

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Citations (0)

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)