RESUMO
Two "new" syndromes of multiple congenital malformations with autosomal-recessive inheritance are presented. One syndrome, found in 2 sibs of nonconsanguineous parents, included microcephaly, agencies of the corpus callosum, pterygium colli, cystic renal dysplasia (CRD) and postaxial polydactyly (PP). The other, found in 2 female sibs of consanguineous parents, included micropolygyria, CRD, PP, and polysplenia. The literature review allows the delineation of a community of 19 "cerebro-reno-digital" syndromes with autosomal recessive inheritance, 14 of which include cerebral anomalies, CRD and PP. Three more autosomal recessively inherited syndromes had CRD (or renal fibrosis) and cerebral anomalies (without digital anomalies), three others involved cerebral and digital anomalies (without renal anomalies), and one further syndrome showed CRD and ectrodactyly (without cerebral defects). Such phenotypical similarity may be attributed to the fact that there are common links in the pathogenesis of the syndromes under study.
Assuntos
Anormalidades Múltiplas/genética , Encéfalo/anormalidades , Dedos/anormalidades , Doenças Renais Císticas/genética , Crânio/anormalidades , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/patologia , Disostose Craniofacial , Feminino , Humanos , Recém-Nascido , Doenças Renais Císticas/congênito , Masculino , LinhagemRESUMO
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.
Assuntos
Cromossomos Humanos Par 4 , Trissomia , Feminino , Humanos , Lactente , Recém-Nascido , FenótipoRESUMO
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.
Assuntos
Cromossomos Humanos Par 3 , Ossos Faciais/anormalidades , Crânio/anormalidades , Trissomia , Anormalidades Múltiplas/genética , Encéfalo/anormalidades , Feminino , Humanos , Lactente , Cariotipagem , SíndromeRESUMO
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.
