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Biomedical subjects

M C Digilio

Publications and source records attributed to M C Digilio.

105 records · Page 6Linked to original sources
PubMed1992

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.

Three unrelated patients with de novo del 11q23-->qter are reported. Clinical features included growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures, eye globe malformations, depressed nasal bridge, "carp-shaped" mouth, highly arched palate, low set and malformed ears. One patient had congenital heart defect, and reduced platelet count. This syndrome, originally reported by Jacobsen, is now corroborated by more than 35 patients and appears as the most common deletion involving 11q. Since deletion of subband 11q24.1 is critical for full expression of this syndrome, the JBS phenotype could be an example of contiguous gene syndrome.

Abnormalities, Multiple↗
PubMed1991

[The life style and physical activity of the child operated on for congenital cardiopathy].

The parents of 151 children operated on for congenital heart disease have answered some questions about the scholastic, extrascholastic and physical activity of their children. Approximately 94% of the children are at the correct school level for their age. Extrascholastic activities of the city children is the same as children living in the country. During their free time 22% of the child population engages in physical activity, whereas 78% of the child population engages in physical activity at school. Among the parents, 61% think the activity of their children is normal, and 27% think it is too active. Our results demonstrate that the children operated on for congenital heart disease have a normal life during scholastic and free time, whereas, the introduction of these children to sport activities is anomalous and insufficient.

Adolescent↗
PubMed1991

[Trisomy 18 associated with atrioventricular canal].

We describe the clinical and necropsy findings of a newborn with trisomy 18 and atrioventricular canal. The patient also showed an aortic coarctation, a dysplasia of the common atrioventricular valve and multiple extracardiac anomalies. The atrioventricular canal, so frequent in patients with trisomy 21, is unusual in trisomy 18. The present case is the 6th of the medical literature.

Chromosomes, Human, Pair 18↗
PubMed1989

Atrioventricular canal associated with trisomy 9.

The features of a newborn with the full clinical aspect of trisomy 9 presenting with an atrioventricular canal is described. This association of anomalies has never been reported before. Interestingly, the patient also had a left-sided obstruction which is known to be more characteristically associated with atrioventricular canal without Down's syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype.

The increasing role of genetic factors in the etiology of congenital heart defects is shown by the high frequency of genetic syndromes and extracardiac malformations in these patients. The accurate study of cardiac anatomy disclosed that peculiar morphologic subtypes of heart defects are related to specific genetic conditions. The correlation between anatomic cardiac patterns and some genetic anomalies (trisomy, deletion, mutation) suggests that specific morphogenetic mechanisms put in motion by gene(s) can result in a specific cardiac phenotype. In this review we analyze the cardiac morphology and the frequent genetic syndromes in five groups of congenital heart diseases: right-sided obstructions, left-sided obstructions, atrioventricular canal defects, ventricular septal defects, and conotruncal defects. Progress in this field is due not only to new research in molecular biology, but also to the attention of clinicians to a detailed cardiac diagnosis and to specific correlations between genotype and phenotype.

Abnormalities, Multiple↗
PubMedDate not supplied

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome).

PURPOSE: Patients with microdeletion of chromosome 22q11.2 (del22q11) were studied, in order to evaluate auxological parameters and to correlate growth patterns with the presence of main clinical characteristics of the syndrome. METHODS: Between January 1995 and March 2000, auxological parameters (weight, height, head circumference, and bone age) of 73 patients with del22q11 were collected. Five subgroups of patients were distinguished: Group I (37 patients) included patients aged between 0.3 and 4 years, Group II (20 patients) included patients aged between 5 and 10 years, Group III (16 patients) included patients aged between 11 and 16.3 years. The presence or absence of some clinical features was correlated to growth patterns. RESULTS: Weight: in Group I, 5 of 37 (13.5%) patients were below the 3rd percentile, 29 of 37 (78.3%) were below the mean percentile, none was overweight; in Group II, 13 of 20 (65%) patients were between the 10th and the 50th percentiles; in Group III, weight corresponded to the 97th percentile in 5 of 16 (31.2%) patients, and in 2/16 (12.5%) adolescents, the weight measurements were even above the 97th percentile. Height: short stature was detected in 7 of 73 (9.6%) of the total patients; the patients with short stature were all < 10 years old; the height was within the normal age in all adolescent patients. Head circumference: it was below the 3rd percentile in 7 of 73 (9.6%), between the 3rd and the 25th percentiles in 36 of 73 (49.3%) patients, between the 25th and the 75th percentiles in 20 of 73 (27.3%) patients, and between the 75th and the 97th percentiles in 10 of 73 (13.7%) patients. Bone age: mean +/- SD bone age was -0.25 +/- 0.78 years. Comparisons: the only statistically significant correlation was that between the presence of feeding difficulties and underweight. CONCLUSION: Auxological parameters of children with del22q11 are characterized by: (1) weight deficiency in the first years of age, (2) weight normalization in the following years, (3) development of obesity in adolescence, (4) short stature in 10% of the patients, (5) normal height in adolescents, (6) slight delay in bone age in infancy, (7) microcephaly in 10% of the patients.

Adolescent↗
PubMedDate not supplied

Anatomic patterns of conotruncal defects associated with deletion 22q11.

PURPOSE: Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our series were studied in order to (1) analyze the association with dysmorphic features and noncardiac anomalies, (2) identify specific cardiac patterns and the distinctive association with additional CVMs. METHODS: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syndromes, 628 without dysmorphic features) underwent accurate cardiac assessment, clinical and phenotypical examination, and screening for deletion 22q11 by fluorescence in situ hybridization (FISH). RESULTS: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic. CONCLUSION: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infundibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients.

Abnormalities, Multiple↗
PubMedDate not supplied

Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion.

Mental retardation (MR) is a typical feature of Langer-Giedion syndrome (LGS). Only 18 cases of LGS without MR have been reported. All of them either had normal karyotype or carried a deletion not exceeding the 8q24 band. Thus, it has been proposed that MR in LGS patients is associated with larger deletions. A patient with LGS and a large 8q23.2-q24.22 deletion but without MR is reported. This case suggests that there is not any particular gene which alone is responsible for MR in LGS patients, but it is the reduced expression of a large number of genes which predisposes to MR.

Child↗
PubMedDate not supplied

The search for hemizygosity at 22qll in patients with isolated cleft palate.

The striking association between oral clefting and the velocardio-facial syndrome (VCFS), a common disorder pathogenetically related to 22q11 deficiency, has prompted the search for this deletion in a group of patients with isolated cleft palate. (CP). Thirty-three patients with posterior CP and 5 with complete CP were included in this study, together with 12 patients with a clinical diagnosis of VCFS. Standard and high resolution chromosome analysis was performed, providing normal results. Southern blotting followed by densitometric analysis and fluorescent in situ hydridization of region 22q11 showed no single case of deletion among the isolated CP patients, while deficiency was found in 10 of 12 VCFS patients. These results demonstrate that hemizygosity at 22q11 is not increased in isolated CP.

Adolescent↗