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Biomedical subjects

A Schinzel

Publications and source records attributed to A Schinzel.

At least 217 records · Page 12Linked to original sources
PubMed1982

[The use of chromosome variants in clinical cytogenetics (author's transl)].

Chromosome variants (= markers) are segments of variable length and staining properties which do not exert an apparent impact on the phenotype of the person. These variants mainly include centromeric segments on chromosomes 1, 3, 4, 9, 13-15, 21, 22 and the distal long arm of the Y chromosome. Individual markers differ by their variable length and fluorescence intensity following Q-staining. Inheritance is dominant, and fresh mutations occur very rarely indeed. Markers can be used for the following purposes: To demonstrate the take of a bone marrow transplant; to determine zygosity in like-sexed twins and paternity (both already feasible during the fetal period); to determine maternal versus paternal origin of additional chromosomes (trisomies), of de novo structurally altered chromosomes, and of haploid sets in triploidy and chimerism.

Bone Marrow Transplantation↗
PubMed1982

Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.

We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this "new" type of IUGR remains unclear.

Child↗
PubMed1982

Prenatal ultrasound detection of humero-radial synostosis in a case of Antley-Bixler syndrome.

The Antley-Bixler syndrome is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley-Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80 degrees in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky craniocaudal movements in its shoulders, but did not, during five hours of real-time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero-radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero-radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.

Abnormalities, Multiple↗
PubMed1981

Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families.

A syndrome due to 3:1 meiotic segregation of balanced 11/22 translocation is defined from nine personally observed patients and 22 cases from the literature with apparently the same aberration. Frequent findings include a characteristic face with deep-set eyes, flat nose, prominent upper lip, receding mandible and preauricular pits or tags, male genital hypoplasia, anal atresia or other anomalies of the anus, cleft palate, and congenital heart defect. Less frequent are severe reduction of the auricles, an additional pair of ribs, and hypoplasia of the diaphragm. Perinatal mortality is high. Growth is usually and psychomotor development is invariably and severely delayed. Balanced 11/22 translocations are apparently disproportionally frequent; as the balanced rearrangement is not easy to detect, it is important to be aware of it at the family investigation of cases with extra chromosomes similar to a No. 22 or 22q-. The unbalanced products are most probably trisomic for both a segment of 22 (22q-) and a distal segment of 11q; the exact determination of the breakpoints is not possible at present due to the similar banding characteristics of the two segments involved in the translocation.

Abnormalities, Multiple↗
PubMed1981

Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13).

Two brothers with duplication of the distal segment of 22q inherited from a t(6;22)(q27;13) translocation carrier mother presented with intrauterine growth retardation, congenital hydrocephalus, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, hypertelorism, small nose with prominent bridge, prominent upper lip, and small mandible. In addition the second sib revealed renal hypoplasia, arrhinencephaly and pentalogy of Fallot. The patients died at ages eight days and one day, respectively. The two brothers appear to be the first instances of familial trisomy 22q13 leads to qter.

Chromosomes, Human, 21-22 and Y↗
PubMed1981

Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22.

A severely growth-retarded female newborn is described, who dies a few hours after birth. About half of the clones and metaphases from an amniotic fluid cell culture (set up at 35th week of gestation) and only 1/27 of the metaphases from a blood lymphocyte culture contained an additional No. 22 chromosome. Abnormal findings in the patient included a complex congenital heart defect, membranous anal atresia without fistula, distal limb hypoplasia, partial cutaneous syndactyly between second and third toes, and a left preauricular pit. On the basis of this case and other reports from the literature arguments for and against the existence of full human trisomy 22 are discussed. The conclusion seems likely, that full trisomy 22 usually presents a lethal condition in man, though at present an occasional survival cannot be excluded.

Abnormalities, Multiple↗
PubMed1981

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schmid and Fraccaro. All cases had, in addition to a normal karyotype, a small extra G-like chromosome which appeared to be an isochromosome for the juxtacentromeric region (pter to q11) of an acrocentric chromosome. None were mosaics. Clinical findings and further cytogenetic studies in a few cases suggest that these markers probably derive from a No. 22 chromosome. Characteristic features of the Cat Eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes. Intelligence is usually low-normal, although moderate retardation is also seen. There is great variability in the clinical findings ranging from near normal to lethal malformations. Less frequent, but also characteristic findings are: microphthalmia, microtia with atresia of the external auditory canal, intrahepatic or extrahepatic biliary atresia and malrotation of the gut. Direct transmission of the marker from one generation to the other was observed in both sexes. In those families, there was considerable variability in the clinical findings between affected family members. These cases show that there is a bias of ascertainment for patients who have the more striking malformations, especially those with ocular coloboma and anal atresia, a combination which appears to be present in only a minority of cases. Many mildly affected patients probably remain undetected. It is proposed that the term Cat Eye syndrome should be applied only to cases with trisomy or tetrasomy of not more than 22pter to q11 and without additional duplication or deletion of another autosomal segment.

Adolescent↗
PubMed1981

Computed tomography in Pelizaeus-Merzbacher disease.

CT findings in two related males suffering from the classical X-linked recessive form of Pelizaeus-Merzbacher disease (PMD) are described. CT revealed marked cerebellar atrophy and focal areas of demyelination of cerebral white matter in a 25-year-old patient. This agrees with known neuropathological changes. However, CT was normal in the 14-year-old nephew, although his neurological symptoms were nearly as severe as his uncle's. Judging from this observation and from the scant information in the literature it seems that CT in classical PMD is normal in the first decade and is therefore not helpful in confirming the diagnosis of PMD at an early stage.

Adolescent↗
PubMed1981

Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.

Chromosome Banding↗
PubMed1980

Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia.

We describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digitis. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube-neural crest dysplasia with multiple secondary and tertiary manifestations and deformities.

Arthrogryposis↗
PubMed1980

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern of abnormalities. Both had severe mental retardation, macrocephaly, absence of the corpus callosum, unusual facial appearance, duplication of hallucal phalanges, postaxial hexadactyly of finger phalanges, and 2/3-syndactyly of toes. The boy also had postaxial hexadactyly of toe phalanges, inguinal hernias and umbilical hernia, and growth retardation. We suspect a common cause of this apparently "new" syndrome, most likely a gene mutation.

Abnormalities, Multiple↗
PubMed1980

Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother.

A 3 1/2-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and beaked nose, full cheeks, malformed auricles, hypoplastic external genitalia, rocker-bottom feet with prominent heels, and various minor radiologic anomalies of bones. An extra chromosome in his karyotype appeared to represent trisomy of the short arm of chromosome 20 due to a maternally inhherited balanced t(13;20)(p11;q11) translocation.

Abnormalities, Multiple↗