ABSTRACT
The authors report two cases of infantile metachromatic leucodystrophy in monozygotic female twins, born from a second cousin marriage (f = 1/32). The zygosity was determined by means of obstetrics and genetics marker findings.
Subject(s)
Diseases in Twins , Leukodystrophy, Metachromatic/genetics , Child, Preschool , Female , Genetic Markers , Genotype , Humans , Twins, MonozygoticABSTRACT
The cause of fibrous dysplasia of the bone is obscure. We reviewed the available literature concerning temporal bone involvement and analyzed temporal bone involvement and analyzed the most common aspects of this fascinating disease, adding three cases of our own. A clinical staging is proposed: stage 1, latent; stage 2, symptomatic; and stage 3, complication. Clinical evolution and follow-up are described and treatment is suggested.
Subject(s)
Fibrous Dysplasia of Bone/pathology , Temporal Bone/pathology , Adult , Child , Child, Preschool , Female , Fibrous Dysplasia of Bone/complications , Fibrous Dysplasia of Bone/diagnostic imaging , Humans , Male , Radiography , Temporal Bone/diagnostic imagingABSTRACT
We report another case of acheiropodia, a rare autosomal recessive trait of distal limb deficiency, to date seen only in Brazil in persons of Portuguese ancestry. The patient's parent were first cousins; she had two younger affected sisters. She presented with signs of vascular insufficiency of the lower stumps, which after amputation were found to lack large vessels below the knee.
Subject(s)
Abnormalities, Multiple/genetics , Foot Deformities, Congenital , Genes, Recessive , Hand Deformities, Congenital , Adult , Brazil , Consanguinity , Female , Humans , Leg/blood supply , Pedigree , Phenotype , Portugal/ethnologyABSTRACT
18 albinos were born on Lençóis island. Since 3 of them died and 5 emigrated, the prevalence of albinism is about 3% in the island. 2 inbred brothers with brachydactyly of the index fingers and 1 case of 'achondroplasia' were also found. The analysis of the population structure of the island suggests that its high frequency of albinism may have been produced by random drift. The index of isolation of its present population is roughly 17--27. Genealogical, clinical and histological data are presented and anslyzed. Natural selection is not acting against the albinism gene at a measurable rate. Cytogenetic investigations among albinos and normals did not reveal any difference as regards frequency of aneuploidy, association of acrocentrics and chromatid gaps. The role of random processes in evolution is mentioned and the possibility that they may be more important than it is sometimes assumed is stressed.
Subject(s)
Gene Frequency , Achondroplasia/genetics , Adult , Albinism/epidemiology , Albinism/genetics , Albinism/mortality , Brazil , Congenital Abnormalities/epidemiology , Congenital Abnormalities/genetics , Female , Fertility , Fingers/abnormalities , Humans , Male , PedigreeABSTRACT
A case is presented of a patient with bilateral gonadoblastoma characterized by primary amenorrhea and intense, generalized hirsutism. The physical examination showed somatic stigmas compatible with gonadal dysgenesis. Pneumopelvigraphy showed a uterus and hypoplastic gonads; no microcalcification was seen. Negative sex chromatin in buccal mucosal cells and a 46, XXr/46,XXp-q-45,X karyotypic constitution was found.
Subject(s)
Dysgerminoma/genetics , Mosaicism , Turner Syndrome/genetics , Adolescent , Dysgerminoma/diagnosis , Dysgerminoma/pathology , Female , Gonads/pathology , Humans , Karyotyping , Turner Syndrome/diagnosis , Turner Syndrome/pathologyABSTRACT
A 10 year old girl with a mental age of 7-8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.