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M C Digilio

Publications and source records attributed to M C Digilio.

At least 91 records · Page 5Linked to original sources
PubMed1995

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

Abnormalities, Multiple↗
PubMed1994

Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype.

A baby is described with 45,X/46,XX,i(21q) mosaicism. DNA analysis indicated that the abnormality arose from two independent postzygotic mutations in a 46,XX zygote, involving the paternal chromosomes 21 and X. In agreement with previous reports, most of the clinical dysmorphisms observed were consistent with Down syndrome. Moreover, congenital heart disease consisted of an atrioventricular canal associated with slight hypoplasia of the left ventricle and a mitral anulus, a complex defect including features found in both Down and Turner syndromes.

Chromosome Aberrations↗
PubMed1994

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

The molecular defect responsible for a sporadic case of extremely severe (type II/III) osteogenesis imperfecta was investigated. The mutation site was localised in the collagen type I pro alpha 2 mRNA molecules produced by the proband's skin fibroblasts by chemical cleavage of mismatch in heteroduplex nucleic acids. Reverse transcription-polymerase chain reaction DNA amplification, followed by cloning and sequencing, showed heterozygosity for a G to T transversion in the first nucleotide of exon 37 of the COL1A2 gene, which led to a cysteine for glycine substitution at position 640 of the triple helical domain. This newly characterised mutation is localised in a domain which contains several milder mutations, confirming that glycine substitutions within the alpha 2(I) chain do not follow a linear gradient pattern for genotype to phenotype correlations. In a subsequent pregnancy, absence of the G2327T mutation in the fetus was shown by allele specific oligonucleotide hybridisation to the trophoblast derived fibroblast mRNA after reverse transcription and in vitro amplification. (The nucleotide number assigned to the mutant base was inferred from the numbering system devised by the Osteogenesis Imperfecta Analysis Consortium (The OIAC Newsletter, 1 April 1994).)

Base Sequence↗
PubMed1994

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

Two patients with trisomy 8 syndrome owing to an isodicentric 8p;8p chromosome are described. Case 1 had a 46,XX/46,XX,-8,+idic(8)(p23) karyotype while case 2, a male, had the same abnormal karyotype without evidence of mosaicism. In situ hybridisation, performed in case 1, showed that the isochromosome was asymmetrical. Agenesis of the corpus callosum (ACC), which is a feature of trisomy 8 syndrome, was found in both patients. Although ACC is associated with aneuploidies for different chromosomes, a review of published reports indicates that, when associated with chromosome 8, this defect is the result of duplication of a gene located within 8p21-pter. Molecular analysis in one of our patients led us to exclude the distal 23 Mb of 8p from this ACC region.

Abnormalities, Multiple↗
PubMed1993

Risk of congenital heart defects in relatives of patients with atrioventricular canal.

OBJECTIVE: To investigate the overall occurrence of congenital heart disease in 103 pedigrees with a proband affected with atrioventricular canal. DESIGN: Family study of patient series. SETTING: Department of Pediatric Cardiology, Bambino Gesu' Hospital, Rome, Italy. PARTICIPANTS: One hundred three consecutive patients with atrioventricular canal and normal karyotype and their first- and second-degree relatives. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: In 12 pedigrees (11.7%), one or more relatives had concordant or discordant congenital heart disease. Congenital heart disease occurred in four (1.9%) of the 206 parents of probands, in four (3.6%) of the 111 siblings, and in five (0.8%) of the 644 uncles or aunts. None of the grandparents had congenital heart disease. Atrioventricular canal affected several family members in five pedigrees. CONCLUSIONS: Familial aggregation of atrioventricular canal in several pedigrees requires careful collection of family histories, accurate cardiologic evaluation of the first- and second-degree relatives of the probands, and fetal echocardiography in all pregnant women in at-risk families.

Adolescent↗
PubMed1993

Down's syndrome and celiac disease: the prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21.

Patients with Down's syndrome (DS) or celiac disease (CD) have altered immune systems. Autoimmune diseases have been described in both conditions; the coexistence of DS and CD has been occasionally reported, but a clear relationship has not been definitely established. In this study we determined IgA antigliadin antibodies (IgA-AGA) in 155 children with DS, and the results were compared with those of the control groups formed by 320 children affected by upper-respiratory tract infections and 115 children with gastrointestinal symptoms but with normal jejunal mucosa. High IgA-AGA levels were found in 26% of DS patients, in 1% of the first control group and in 10% of the second control group. Such differences are statistically significant. Twenty-one DS patients with high IgA-AGA levels and gastrointestinal symptoms underwent jejunal biopsy, and total villous atrophy was found in seven of them (33.33%). HLA-DR and -DQ antigens were also determined in 75 DS patients (20 with high and 55 with normal IgA-AGA levels), and the percentages of the different phenotypes were compared in the two groups and with those of a control group. No statistically significant difference was found, but DR3, DR7, and DQ2 alleles were always present in DS patients with jejunal atrophy. Our study confirms the data reported in the literature about higher levels of IgA-AGA in DS patients and the relatively high incidence of CD in this group of patients.

Adolescent↗
PubMed1992

New case of Bartsocas-Papas syndrome surviving at 20 months.

We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.

Abnormalities, Multiple↗
PubMed1992

Nonrandom association of atrioventricular canal and del (8p) syndrome.

We describe a patient with partial deletion of the short arm of chromosome 8 with an atrioventricular canal. This type of congenital heart defect was found in 4 of the 7 previously reported del (8p) children with a congenital heart defect in which the cardiac assessment was complete. The prevalence of an atrioventricular canal in this aneuploidy is high and suggests a nonrandom association of the 2 anomalies.

Abnormalities, Multiple↗