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R Mingarelli

Publications and source records attributed to R Mingarelli.

83 records · Page 5Linked to original sources
PubMed1992

Acromegaloid facial appearance (AFA) syndrome: report of a second family.

A family is reported in which the 'acromegaloid facial appearance' (AFA) phenotype was segregating through two generations. The five affected persons showed a striking resemblance to the patients previously reported, including progressively coarse acromegaloid-like facial appearance, narrow palpebral fissures, bulbous nose, and thickening of the lips and intraoral mucosa, resulting in exaggerated rugae and frenula. These patients also had increased birth weight and dull mentality. It is unclear if the differences between the two families mark distinct syndromes or simply extend the AFA phenotype.

Abnormalities, Multiple↗
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↗
PubMed1992

Partial deletion 10p syndrome. Report of two patients.

Two patients with partial deletion of the short arm of chromosome 10 are described. They showed most of the features observed in twenty other known patients, including growth retardation, mental deficiency, abnormally shaped skull, distinct facial dysmorphisms, cardiac and genitourinary malformations, and limbs anomalies. One of our patients also had features of the DiGeorge sequence, which has been found in five other cases with this imbalance.

Abnormalities, Multiple↗
PubMed1991

Ring chromosome 8 associated with microcephaly.

A two-year-old mental defective girl with microcephaly and minor dysmorphic features had a 46,XX,r(8) karyotype. Low birth weight, short stature, and mental retardation were common features in the four known patients with r(8).

Chromosomes, Human, Pair 8↗
PubMed1991

Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.

A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct facial dysmorphism, including elongated face, narrow palpebral fissures, epicanthus, and broad nasal bridge. Other characteristic anomalies found only in some patients are retinal anomalies, lymphoedema of hands and feet, and prones to pulmonary infections.

Chromosomes, Human, Pair 14↗
PubMedDate not supplied

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.

Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardation, and other dysmorphisms. FISH analysis using chromosome 8 radiation hybrid LIA2L indicated a concurrent deletion within the 8q rearranged region. These results were corroborated by STR-PCR analysis and FISH using YAC contig WC8.8 disclosed a deletion in 8q13. Comparison of the two known patients with Duane syndrome associated with deletion of 8q identifies a small region of overlap (SRO) of < 3 cM extending from D8S533 and D8S1767 in which a Duane syndrome locus is assigned. In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q.

Child↗
PubMedDate not supplied

[Genetic screenings: state of the art and perspectives for public health].

Management of genetic data needs the fulfillment of technical requirements, involving ethics, law, and social issues. Introduction of genetic information in preventive medicine implies complex consequences and specialized expertise. Genetic screenings represent a promising tool, but further advances are needed to provide their effective and appropriate use in the respect of the privacy. Application areas, tests validation procedures and availability of effective laboratory and qualified service networks are considered. The Authors present main laws and bioethics guidelines in the field.

Genetic Testing↗
PubMedDate not supplied

[Current advances in the cytogenetics and molecular biology of the diagnosis of malformation syndromes].

Consistent progress has been obtained in recent years in the diagnosis and understanding of genetic disease. High resolution chromosome analysis has narrowed the gap between cytogenetics and Mendelism by proving that some diseases considered to be due to monogenic inheritance result in fact from deletion of contiguous genes or breakage of a specific gene. Gene "imprinting" has been found to be the cause of some syndromes, such as the Prader-Willi, Angelman, and Beckwith-Wiedemann. Molecular cytogenetics has become a tool for analysing small rearrangements not easily seen using traditional chromosome analysis, for detecting mosaicisms, and narrowing the "critical" regions of chromosomal syndromes. "Positional cloning" techniques have improved our ability to map disease-genes. Linkage studies and direct analysis of cloned genes are now having a large impact on the analysis of genetic diseases segregating in families, and in testing for healthy heterozygotes and presymptomatic patients. Discovery of mutations in the mitochondrial genome has widened our understanding of disease inheritance. A few disorders have been shown to be due to tandem amplification of GC-rich intragenic triplets. Genetic counseling has taken advantage of these improvements which have a large impact on our knowledge of genetic heterogeneity and variability.

Chromosome Aberrations↗
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↗