RESUMO
We report two cases of a hitherto undescribed pediatric renal neoplasm that is distinctive at the morphological, immunohistochemical, ultrastructural, and cytogenetic levels. On light microscopy, the tumors are composed of nests of polygonal, clear to eosinophilic cells associated with a subpopulation of smaller cells that surround hyaline material. Despite their epithelioid morphology, these tumors do not label immunohistochemically for epithelial markers but instead label focally for melanocytic markers HMB45 and Melan A. The hyaline material is positive with periodic acid-Schiff and methenamine-silver histochemical stains, and labels immunohistochemically for type 4 collagen. Ultrastructural examination confirms that it represents basement membrane material. Cytogenetic analysis reveals the identical t(6;11)(p21.1;q12) chromosome translocation as the sole abnormality in these two tumors, confirming their identity and distinctive nature.
Assuntos
Membrana Basal/ultraestrutura , Biomarcadores Tumorais/análise , Neoplasias Renais/genética , Neoplasias Renais/patologia , Proteínas de Neoplasias/análise , Translocação Genética , Adolescente , Antígenos de Neoplasias , Biomarcadores Tumorais/imunologia , Criança , Humanos , Imuno-Histoquímica , Cariotipagem , Neoplasias Renais/química , Masculino , Antígenos Específicos de Melanoma , Microscopia Eletrônica , Proteínas de Neoplasias/imunologiaRESUMO
The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome translocations detected in this patient were de novo in origin.
Assuntos
Síndrome de Down/genética , Mosaicismo , Translocação Genética , Criança , Cromossomos Humanos 21-22 e Y , Feminino , Humanos , CariotipagemRESUMO
The patient described represents the first reported case of partial deletion 10q. The patient is compared to the partial trisomy 10q syndrome.
Assuntos
Asma/genética , Deleção Cromossômica , Cromossomos Humanos 6-12 e X , Deficiência Intelectual/genética , Pré-Escolar , Dermatoglifia , Feminino , Deformidades Congênitas do Pé , Cabelo/anormalidades , Deformidades Congênitas da Mão , Humanos , Microcefalia/genética , FenótipoRESUMO
Severe mental retardation, growth failure, microcephaly, micrognathia, cleft palate, hooked nose, low-set thin flabby ears, pronounced elongated philtrum, and generalized decreased subcutaneous tissue characterized a 5 year 9 month old female with karyotype 47,XX,+15,del(15)(q15).
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos 13-15 , Trissomia , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/genéticaRESUMO
A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.
Assuntos
Cromossomos Humanos 13-15 , Trissomia , Pré-Escolar , Feminino , HumanosRESUMO
A 3-year-old Latin female is reported with a terminal deletion of the No. 1 chromosome, karyotype formula 46, XX, del(1) (q43). Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity. Neurologic - moderate motor and mental retardation; high-pitched, shrill cry; absent pincer grasp at 3 years; and grand mal seizures documented from 9 months of age.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos 1-3 , Deficiência Intelectual/genética , Doenças do Sistema Nervoso/genética , Pré-Escolar , Feminino , Humanos , Cariotipagem , Destreza Motora , LinhagemRESUMO
Preliminary surveys indicate that most populations of Lupinus succulentus are genetically monomorphic for three flower color loci, viz., BB PP DD. In one small geographic area, a number of populations were polymorphic for the D/d locus. In this case, clinal variation and seasonal variation were found. The S/s locus, affecting seed coat pattern, was polymorphic in a large majority of populations and genetic variation at this locus is present in all but a very few colonies. When subdivisions of five large populations were studied, genetic differentiation was found within two of these populations. Gene frequencies tended toward the limits of zero or one in populations from relatively undisturbed sites but tended toward intermediate values in the more disturbed ruderal populations presumed to be recently colonized. It is concluded that recently colonized populations are not always genetically uniform.
