[Translocation 11q;22q: a clinico-cytogenetic study]. / Translokatsii 11q; 22q: kliniko-tsitogeneticheskoe issledovanie.

Seven families with translocations t(11; 22) identified at our Institute and analysis of the literature showed that the imbalance resulted from such translocations is always due to nondisjunction 3:1. Nondisjunction occurs more often in the 1st meiotic division, and is more rare in the second one. Expressed prezygotic selection against spermia with an additional chromosome greatly increases the risk of having an imbalanced child for the women-carriers as compared to men-carriers. The phenotype of the patients with +der(22)t(11; 22) is composed of the features characteristic for trisomy 22q (cleft lip and palate, preauricular papillomas and fistulas, rectal atresia or stenosis) and trisomy 11q (long philtrum with the upper lip hanging over, renal al; asia and hypoplasia). Diaphragmatic hernias are found to be common for the patients with +der(22)t(11; 22).

[Trisomy for distal segments of the long arm of chromosome 1]. / Trisomii po distal'nym segmentam dlinnogo plecha khromosomy 1.

Clinical genetic analysis of distal trisomies 1q, based on the study of a t(1; 6) (q42.1; p24) family and the literature data, was performed. It was demonstrated that phenotypical manifestations of the trisomy are formed by nonspecific anomalies, due to imbalance as such, and by rather specific anomalies caused by triplication of a "critical segment". 1q42-1qter appeared to be such a segment for distal trisomy 1q.

[Genetics of partial trisomies. Trisomy 4p]. / Genetika chastichnykh trisomii. Trisomiia 4p.

Phenotypic picture for two cytogenetically different variants of trisomy 4p (with and without involvement of the proximal part of 4q) obtained on the data of Minsk Teratologic Center and on the review of 64 cases from the world literature is presented. Mathematical evaluation of intrapair, within- and interfamilial similarity, depending on a duplicated segment, is given. It is shown that phenotypic similarity among patients in case of duplicated distal segments 4p15(16)----pter is significantly greater, while as the size of trisomic segment increases, the similarity goes down. Significant excess of within- over interfamilial similarity is shown, the fact that may be ascribed to a greater similarity of the genofonds in the group of relatives.

[The genetics of familial cases of diaphragmatic hernia]. / K genetike semeinykh sluchaev diafragmal'nykh gryzh.

The analysis of 28 family cases of isolated diaphragmatic hernias has shown that family cases have polygenic, rather than recessive type of inheritance. The dominance of males with the ratio of 2:1, manifestation of damage not only in sibs, but also in other relatives, and the absence of consanguineous couples testify in favour of this supposition.

[Langer-Giedion syndrome and deletion in the long arm of chromosome 8]. / Sindrom Langera-Gidiona i deletsiia dlinnogo plecha khromosomy 8.

Del(8) (q24.11-q24.13) were detected in 3 patients with typical Langer-Giedion syndrome (LGS) and studied by high-resolution methods. Analysis of the literature strongly suggests the chromosomal ethiology of the LGS, because in all patients examined in detail a deletion of the segment 8(q24.11-q24.13) was revealed, which is critical for the LGS. Interrelationships between the LGS and two monogenic conditions-tricho-rhino-phalangeal syndrome type I and multiple exostoses are discussed. The possible role of c-myc oncogene in exostoses' (including those in LGS) origin is anticipated.

[Smith-Lemli-Opitz syndrome: evaluation of the correlations between individual traits as an approach to the study of heterogeneity]. / Sindrom Smita-Lemli-Opittsa: otsenka korreliatsii mezhdu otdel'nymi priznakami kak podkhod k izucheniiu geterogennosti.

A computer analysis was used to study heterogeneity of the Smith-Lemli-Opitz syndrome (SLOS) with or without certain anomalies and to determine intrafamilial phenotypical variability. The analysis of 83 SLOS cases showed significant differences in average values of intragroup similarity, estimated for the cases with cleft palate and without it and those with or without polydactyly. The degree of intragroup similarity in familial cases appeared to be twice as high as in sporadic ones. These data confirm the hypothesis on genetic heterogeneity of SLOS with some allelic forms.

[Genetics of partial trisomies. I. Trisomy 2q]. / Genetika chastichnykh trisomii. Soobshchenie I. Trisomiia 2q.

The family, where 2 children had partial trisomy 2q33-q ter, due to paternal translocation t(2;18) (q33;p11.1), was examined. The analysis of 36 cases of trisomy 2q showed that the forms connected with parental chromosomal rearrangement prevailed in the genesis of trisomy 2q. Moreover, the balanced carrier-mothers were more common than fathers. The 2q34-q ter segment may be considered "critical" for occurrence of trisomy 2q syndrome. In case of equal triplication, the similarity between the patients within the same family is greater than between those from different families. The value of intragroup similarity between the patients with equal trisomies may be used for evaluation of phenotypical similarity at different triplicated segments.

[Genetics of Patau's syndrome (an analysis of 59 families)]. / Genetika sindroma Patau (analiz 59 semei).

Different parental translocations were observed in 11 out of 59 families where a child with Patau's syndrome was born. All cases, except for one with t(13; 18) (q14; q23) in the father, revealed the Robertsonian translocations. In most cases there were t(13; 14). The t(13; 15) and t(13; 13) translocations were detected in one mother each. The latter woman bore three babies with Patau's syndrome. One boy in this series had trisomy 13 and sporadic translocation t(2; 22) (q31; q13) simultaneously.

[Genetics of congenital esophageal defects]. / Genetika vrozhdennykh porokov pishchevoda.

An analysis of 304 cases of esophageal atresia in fetuses and neonates showed that frequency of other congenital malformations is 43.1% including 10% of chromosomal disorders and monogenous syndromes. Summarizing the authors' own data and evidences from literature the genetic risk for sibs is calculated to be 0.88% and heredity--57.3 +/- 5.1%. The hypothesis that esophageal atresia is a malformation of multifactorial genesis with polygenic hereditary component is confirmed.

[Pathological anatomy of monogenic syndromes of multiple congenital developmental defects]. / Patologicheskaia anatomiia monogennykh sindromov mnozhestvennykh vrozhdennykh porokov razvitiia.

Morphological study, with no selection, is performed of 1106 stillborns and children died before one year of age with congenital malformations (CM), 536 (46.9 +/- 1.5%) among them having multiple CM. Syndrome diagnosis is made in 44.1 +/- 2.1% cases: in 26.9 +/- 1.9% among them these were syndromes of chromosomal and in 17.9 +/- 1.7% syndromes of non-chromosomal etiology. Monogenic hereditary forms among non-chromosomal syndromes were in 42.1 +/- 4.8%. Comparative analysis of frequency and types of CM of various systems in monogenic and chromosomal syndromes and unclassified CM showed that the monogenic syndromes by their phenotypic manifestations are close to the chromosomal syndromes. The uniformity of alterations of certain morphological structures in these syndromes appear to be the consequence of common ways of realisation of both mutant genes in monogenic syndromes and their imbalance in chromosomal syndromes.

[Congenital developmental defects in the genetic monitoring system. I. The selection of developmental defects subject to dynamic observation]. / Vrozhdennye poroki razvitiia v sisteme geneticheskogo monitoringa. Soobshchenie I. Otbor porokov razvitiia, podlezhashchikh dinamicheskomu nabliudeniiu.'

The requirements for selection of congenital malformations in the system of genetic monitoring as models have been studied. Model malformations have been shown to be easily and reliably diagnosed even in infancy. Their rate should be not less than 1:5000 births. The precise knowledge of the genetics of model forms is needed as well. Down's syndrome registration is the most convenient method for evaluation of mutations in a genome. We recommend registration in total all multiple congenital malformations (without Down's syndrome) for estimation of dominant mutability dynamics, as it was shown that more than 11% of all multiple malformations are caused by sporadic dominant mutations.

[Bowen-Conrad syndrome]. / Sindrom Bouéna-Konradi.

An observation of multiple malformation defects (Bowen-Conradi syndrome) is presented. The main morphological manifestations included: marked prenatal hypoplasia, facial dysplasias, microgeny, clinodactylia of little fingers, hypospadia, cryptorchism, changes in the central nervous system. All the patients with this syndrome die within the first year of life. The disease is inherited by the autosome-recessive type.

[Pathologic anatomy of the Wolf-Hirschhorn syndrome (partial monosomy 4p--)]. / Patologicheskaia anatomiia sindroma Vol'fa-Khirshkhorna (chastichnoi monosomii 4p--).

An analysis of phenotypic manifestations of Wolf-Hirschhorn syndrome from the 60 cases most thoroughly described in the literature and 3 own observations was done. Most characteristic malformations of this syndrome were shown to include coracoid nose and hypertelorism, coloboma of the eyes, hypospadia, aplasia, hypoplasia and polycystosis of the kidneys, dystopia and dysplasia of the cerebellar gyri, shortening of H2 field of the Ammon's horn with imparied orientation of its neurons, sacral sinus, and retarded bone maturation.

["Teratologic series" and their genetics]. / "Teratologicheskie riady" i ikh genetika.

Isolated cyclopia is one of the members of the prosencephalic teratologic series. In some families with cyclopian monster other types of prosencephalic malformations are found in sibs or more distant relatives. All these malformations occur more frequently in females. Different forms of prosencephalies are observed in the same type of chromosome disbalance. These data suggest that morphogenesis and etiology of the prosencephalic malformations are common. Therefore a whole teratologic series but not a single member-malformation must be an object of genetic analysis. The same data are found for another teratologic series: bilateral renal agenesis--unilateral one--aplastic variant of the cystic dysplasia of kidneys. Polygenic inheritance with the threshold phenomenon is the most probable type of genetic determination of such malformations. The more frequent occurrence of polygenic malformations in families with the studied malformation whose inheritance is not yet established may be an indirect indication for the polygenic determination of the latter.