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Biomedical subjects

A Schinzel

Publications and source records attributed to A Schinzel.

At least 181 records · Page 10Linked to original sources
PubMed1987

Confirmation of Fanconi's anemia and detection of a chromosomal aberration (1Q12-32 triplication) via BrdU/Hoechst flow cytometry.

Peripheral blood lymphocyte cultures of a patient with clinical evidence of Fanconi's anemia (FA) were investigated by means of BrdU/Hoechst flow cytometry. This technique can be used to differentiate cycling from noncycling cells after PHA stimulation; it also permits the quantitative assessment of cell cycle progression and cell-cycle arrest. A characteristic cell kinetic pattern of combined G2 phase prolongation and G2 phase arrest was observed in the present patient, confirming the clinical diagnosis of FA. An additional finding was the presence of a small subpopulation of peripheral blood cells, refractory to PHA stimulation, and displaying a DNA content 5% greater than that of the diploid cells. BrdU/Hoechst flow cytometry was crucial to the unequivocal demonstration of this subpopulation, which would not have been detected without enrichment by sequential depletion of PHA-responsive cells from the G0/G1 compartment during a 96-h stimulation experiment. The parallel finding of a presumptive triplication affecting the q12-32 segment of chromosome 1 in rare spontaneous divisions of a 40-h peripheral blood culture is consistent with the flow-cytometric detection of elevated DNA content if, as is common in FA, the abnormal cell lineage represents a preleukemic clone of monocytic origin.

Adolescent↗
PubMed1987

The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene.

A family is described in which four male patients spanning three generations present a consistent clinical entity, the major features of which include: ulnar finger and fibular toe ray defects; delayed growth and onset of puberty, obesity, hypogenitalism and diminished sexual activity; hypoplasia of nipples and apocrine glands with subsequently diminished ability to perspire. Additional findings in single cases include pyloric, anal and subglottic stenosis. To date, another 12 patients in three families have been described with this syndrome. The condition appears to be inherited as an autosomal dominant trait with full penetrance and highly variable expression.

Abnormalities, Multiple↗
PubMed1987

Fryns syndrome in a girl born to consanguineous parents.

An overweight female newborn with multiple congenital anomalies died shortly after birth. The parents were cousins. The following abnormal findings were noted: Broad, square-shaped head with flat nose, misshapen ears, cleft palate, receding chin, short neck with additional skinfolds, disproportionately short limbs, transverse palmar creases, distal digital hypoplasia with hypoplastic finger- and toenails. Autopsy disclosed a number of further malformations including: dysplasia of the hippocampus, atypical lobation of the lungs with cystic-adenomatoid malformation of the left upper lobe, malrotation of the intestine, bilateral cystic renal dysplasia, bilateral atretic ureters plus a right accessory hydroureter, hypoplastic urinary bladder, uterus and vagina duplex and elongated, partly cystic ovaries. The pattern of malformations in this girl is very similar to that of 7 previously reported patients including two sets of siblings and one instance of parental consanguinity. All patients died shortly after birth. For proper genetic counselling and for prenatal ultrasonographic diagnosis in a further pregnancy, it is important to recognize patients with the Fryns syndrome.

Abnormalities, Multiple↗
PubMed1987

Terminal deletion of the short arm of chromosome 3, del(3pter-p25): a recognizable syndrome.

The 3p- syndrome (terminal deletion of the short arm of chromosome 3 with breakpoint at 3p25) was found in the G-banded karyotypes from an undergrown and developmentally retarded 13-month-old girl with a distinct pattern of congenital abnormalities. Features present in the patient and characteristic of the 3p- syndrome included low birthweight, brachy-trigonocephaly, a high and narrow forehead with a prominent metopic suture, epicanthic folds, upslanting palpebral fissures, ptosis, depressed nasal bridge, anteverted nares and a small mandible. She lacked postaxial polydactyly of fingers and toes which is present in about half of the so far reported about one dozen 3p- cases, but she showed an anteriorly placed anus. The deletion was overlooked at a first routine cytogenetic examination. At a later clinical evaluation of the patient, the suspicion of the 3p- syndrome was raised and the aberration found at revision of the old karyotypes. The importance of a good information flow between clinicians and cytogeneticists is stressed.

Anal Canal↗
PubMed1986

Characterization of the supernumerary chromosome in cat eye syndrome.

Most individuals with cat eye syndrome (CES) have a supernumerary bisatellited chromosome which, on the basis of cytogenetic evidence, has been reported to originate from either chromosome 13 or 22. To resolve this question, a single-copy DNA probe, D22S9, was isolated and localized to 22q11 by in situ hybridization to metaphase chromosomes. The number of copies of this sequence was determined in CES patients by means of Southern blots and densitometry analysis of autoradiographs. In patients with the supernumerary chromosome, four copies were found, whereas in one patient with a duplication of part of chromosome 22, there were three copies. Therefore, the syndrome results from the presence of either three or four copies of DNA sequences from 22q11; there is no evidence that sequences from other chromosomes are involved. This work demonstrates how DNA sequence dosage analysis can be used to study genetic disorders that are not readily amenable to standard cytogenetic analysis.

Abnormalities, Multiple↗
PubMed1986

The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients.

Eight patients (three sporadic, five from two families) with the velo-cardio-facial syndrome (VCFS) or Shprintzen syndrome are reported. Major clinical findings of this syndrome include a characteristic pattern of facial dysmorphisms, cleft palate, cardio-vascular malformations, and (mostly mild-to-moderate) mental retardation or learning difficulties. The syndrome probably is caused by a dominant gene with very variable expression. From previous reports mostly ascertained from cardio-vascular or cleft palate clinics, the incidence of cleft palate and heart defects was calculated to be 98% and 82%, respectively. Out of eight patients of this study who were diagnosed mainly through their pattern of facial dysmorphisms, only two and four had clefts and heart defects, respectively, further demonstrating the variability in the expression of this gene. Similarly, mental retardation, noted in 100% of previous publications, was not present in all of our patients. In two instances, examination of the mother revealed that she probably carried the mutant gene, but that she showed a milder clinical expression than the index patient. It is suggested that careful family investigations should be performed following detection of an index patient, and that the rate of fresh mutations might be not as high as previously assumed.

Abnormalities, Multiple↗
PubMed1986

[Practical aspects of genetic counseling in pediatric surgically correctable congenital abnormalities].

The principles of genetic counselling are discussed with special emphasis on congenital structural defects amenable to paediatric surgery. Basic requirements for genetic counselling include, for the consultants, motivation, and for the physician, (geneticist or other), that all diagnostic investigations have been performed to allow for a genetic classification of the defect, and that all possible further family members at risk of transmitting or carrying the mutant gene have been detected. During the genetic counselling session, the following topics are usually discussed: nature and significance of the congenital defect; prognosis; recurrence risk for different family members; prenatal diagnosis, if possible; other preventive measures. Because of progress in treatment and correction of congenital malformations, but also due to alteration in reproductive habits of the general population, genetic counselling has become increasingly important in the recent past. It does, and will require in increasing measure, a good cooperation between paediatric surgeons and medical geneticists.

Child↗
PubMed1986

Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study.

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 male and 200 female control individuals. The results show that there is a strong association between the fra-X-syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra-X-syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a-b RC, absence of c-triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra-Xq27 also. The combination of palmar and plantar patterns, expressed by a "log. score-Index", provides a high degree of discrimination between the male patients with fra-X-syndrome and the control group. A preliminary log. score-Index was developed also for the female heterozygotes. A "phantom picture" of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra-Xq27-syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.

Adolescent↗
PubMed1986

The acrocallosal syndrome in sisters.

Two sisters born to non-consanguineous healthy parents are described who present the following abnormalities: macrocephalus, prominent forehead, hypertelorism, absence of the corpus callosum, inguinal hernias, duplication of hallucal phalanges and severe mental retardation. The older sister in addition had cleft palate, while only the younger had a supratentorial cyst between cerebrum and cerebellum and epileptic fits. After 6 sporadic cases, this is the first instance of siblings with the acrocallosal syndrome. This observation and definite and possible parental consanguinity in two further patients suggest that this syndrome might be recessively inherited.

Abnormalities, Multiple↗