Comment on the paper of Qumsiyeh et al. (Am J Med Genet 41: 99-101, 1991)
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Abnormalities, Multiple↗
Biomedical subjects
B Dallapiccola
Publications and source records attributed to B Dallapiccola.
Familial aplasia cutis congenita and coarctation of the aorta.
We report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi-factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation.
Adult↗
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↗
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↗
Baller-Gerold syndrome: case report and clinical and radiological review.
The major manifestations of the Baller-Gerold syndrome (BGS) are craniosynostosis and preaxial limb anomaly involving the radius and/or the thumb. We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset growth deficiency, and mental retardation. This patient also had some minor oral-facial anomalies, severe nonfamilial myopia, bilateral conductive hearing loss, ureteric reflux, and skeletal anomalies other than those noted in the skull and upper limbs. This patient confirms the clinical variability among the patients and the wide pleiotropic effects of the BGS gene.
Abnormalities, Multiple↗
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle.
Recent studies have shown that the gene encoding for the slow skeletal troponin isoform T (TNNT1) is located on the proximal long arm of human chromosome 19 in the myotonic dystrophy (DM) region. In order to test TNNT1 as a candidate gene for DM, we have isolated TNNT1 cDNA from skeletal muscle from two healthy individuals and from two patients with DM. Sequencing of the TNNT1 cDNA from the DM and normal muscle revealed two sequence variants but no transcriptionally significant mutations. This work rules out a defect in the coding segment of TNNT1 as a cause of DM and provides a polymerase chain reaction protocol for studying troponin T gene expression.
Adult↗
Prenatal diagnosis of terminal deletion 1 (q42)
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Abnormalities, Multiple↗
Horseshoe lung: an additional component of the Vater association.
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Abnormalities, Multiple↗
Radiographic findings in Wiedemann-Rautenstrauch syndrome.
We describe a girl who presents the features of Wiedemann-Rautenstrauch syndrome. This autosomal recessive condition has characteristic radiographic findings which can be considered manifestations of the syndrome.
Bone and Bones↗
Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.
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Animals↗
The prevalence of HPV16DNA in normal and pathological cervical scrapes using the polymerase chain reaction.
Human papillomavirus (HPV) has been implicated in the development of cervical cancer. Newly developed molecular techniques have facilitated HPV identification and typing of cervical lesions. Several studies have suggested a strong correlation between HPV16 and intraepithelial cervical neoplasia. However, there is no agreement on this point since HPV16 is detected also in normal cervical tissue. We have amplified the L1 region of HPV16 DNA using the polymerase chain reaction (PCR) technique and analyzed the HPV16 prevalence in cytological scrapes of 201 Italian sexually active patients. One hundred twenty-four of these women had normal cytologic and colposcopic examination, while seventy-seven women had normal or abnormal cytology and a cervical lesion detectable by colposcopy. Within this latter group, 25 of 77 women (32.4%) were positive for HPV16 DNA, compared to 11 of 124 samples (8.87%) from women with normal cytology and colposcopy. The present results confirm the high efficiency of the PCR technique in detecting HPV16 DNA from cervical scrapes and suggest that this analysis should become a method of choice in clinical studies.
Adult↗
Inosine-containing primers in human papillomavirus detection by polymerase chain reaction.
A PCR protocol has been developed using inosine-containing primers for human papilloma virus (HPV) detection. The HPV16 L1 region from CaSki-positive cells was efficiently amplified by a single reaction and directly analyzed by agarose gel electrophoresis. The method was found to be sensitive and reproducible, and it easy to use for HPV typing and screening.
Base Sequence↗
Genotyping of spinal muscular atrophy families with linked DNA probes.
We report on linkage analysis and haplotype characterization in 40 Italian families with spinal muscular atrophy (SMA). The investigated loci included D5S6, D5S112, D5S39, and D5S76. No evidence of unlinked families was found. Thirty-two (80%) of the examined families were fully informative for prenatal diagnosis and carrier detection. The frequencies of individual alleles did not differ between SMA and normal chromosomes.
Adult↗
Familial postaxial acrofacial dysostosis syndrome.
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Abnormalities, Multiple↗
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↗
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↗
Molecular studies of a translocated (X;22) DiGeorge patient using somatic cell hybridization.
In order to better characterize the chromosomic rearrangement of an unbalanced 45XX t(X;22) (q28;q11) DiGeorge patient, a somatic hybrid clone segregating the translocated chromosome was constructed and investigated using X and 22 linked markers. Our study demonstrated that this de novo translocation was from paternal origin. The breakpoint was assigned between DXS296 and IDS loci at Xq28 and between D22S9 and BCRL2 at 22q11. This observation and published data allow to locate a "critical region" for DiGeorge syndrome between these two last loci on 22q11. Our hybrid clone may be a useful tool for mapping new probes arising in this region.
Blotting, Southern↗
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↗