[Indications for chromosome analysis].
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Abortion, Spontaneous↗
Biomedical subjects
R A Pfeiffer
Publications and source records attributed to R A Pfeiffer.
Clotting factors VII and X as useful markers of terminal deletion of chromosome 13.
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Adult↗
Triploid embryo after in vitro fertilization.
A case of a triploid embryo (69,XXX) resulting from in vitro fertilization is reported. The pregnancy ended in spontaneous abortion 44 days after embryo transfer. The embryo showed anomalies considered typical of triploidy but molar changes were not noted. The origin of extra chromosomes was apparently maternal.
Abnormalities, Multiple↗
[Prenatal ultrasonic diagnosis of achondroplasia].
The pregnancy of a woman with achondroplasia was monitored by ultrasound from the 29th to the 38th week of gestation. Starting with the 29th week of gestation, there was a suspicion of the foetus having the same skeletal dysplasia. The following measurements were in the pathological range: the length of the upper arm, the humerus, the lower arm, the thigh, the femur, the leg, the tibia, as well as the maximal thigh diameter, the ratios of thigh diameter to crown-rump length and maximal thigh diameter to the biparietal diameter. Unsuspected head-rump measures associated with measurements, displayed an achondroplasia which had been discovered in the newborn.
Achondroplasia↗
Extreme variant of septo-optic dysplasia.
A newborn female is demonstrated, the first child of healthy unrelated parents who was born after an uneventful pregnancy. Computerized tomography of the brain revealed gross malformations of the parietal and occipital lobes, of the cerebellum and of midline structures. The pictures are reminiscent of hydranencephaly. The association with bilateral coloboma of the papilla and diabetes insipidus is considered an extreme variant of septo-optico dysplasia.
Brain↗
Familial congenital cataract, non-progressive neurological disorders and mental deficiency: a new X-linked syndrome?
The association of congenital cataracts, non-progressive spastic paresis and severe mental deficiency in male cousins, whose mothers are similarly though less affected, is reported. In the literature a few observations give rise to comparison, but to the best of our knowledge, an identical case has not been published.
Cataract↗
[Connatal ptosis: a symptom of the syndrome of multiple pterygium and arthrogryposes].
Report on a 56-year-old female exhibiting features of the multiple pterygium syndrome, e.g., puffiness and ptosis of the upper lids, hypertelorism, pterygium of the metacarpophalangeal joints, hypomobility of joints, short stature, obviously inherited as an autosomal recessive trait. In differential diagnosis distal arthrogryposis has to be considered. It is not known whether the intravitreous hemorrhage from which this patient suffered is associated with the disorder.
Arthrogryposis↗
Evidence that activities of coagulation factors VII and X are linked to chromosome 13 (q34).
In 7 patients with various anomalies of chromosome 13 coagulation, studies were performed. A 50% decrease of activities of factor VII and X were noted only in cases with deletion of 13 (q34) which supports the hypothesis that they are linked to this region.
Adolescent↗
[Phenotype of trisomy 9].
A male infant with multiple malformations (cleft lip und palate, contractures of joints, aplasias and dysplasias of fingers and toes), antenatal and postnatal dystrophy and severe retardation of psychomotor development as features of trisomy 9 is described. The phenotype of this rare chromosomal aberration is summarized from 20 cases published since 1973.
Abnormalities, Multiple↗
Interstitial deletion of a chromosome 7 (q11.2q22.1) in a child with splithand/splitfoot malformation.
Report on a 2-year-old, severely retarded girl with partial monosomy of 7q who exhibited not only features possibly due to the chromosomal aberration such as intrauterine dystrophy, microcephaly, odd facies, cleft palate, CHD, but also typical splithand/splitfoot malformation.
Abnormalities, Multiple↗
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.
Acrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.
Cleft Palate↗
Invasive dysgerminoma in a girl with 45,X/46,X; mar mosaicism.
We report a 16-year-old girl with features of Turner's syndrome from whom an invasive dysgerminoma was removed. Cytotoxic drugs were given for the next 12 months. Mosaicism of two karyotypes (45,X/46,X; mar) was found in various tissues. The literature is reviewed with special regard to cytogenetic findings and prognosis of malignant growth and differentiation of dysgenetic gonads.
Adolescent↗
[Prenatal cytogenetics. Indications--organization--problems].
Amniotic cell cultures, successfully introduced in 1966, are the tool to study the fetal karyotype most frequently because of maternal age risk for aneuploidies, particularly trisomy 21. The methodological problems of culturing (i.e. pseudomosaics, polymorphisms) are discussed with special regard to improvements and new techniques such as flow cytophotometry, culture of trophoblasts and fetal lymphocyte culture.
Amnion↗
Correlation between testicular tissue and H-Y phenotype in intersex patients.
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Adolescent↗
[Spondylocostal dysostosis. Report of 5 cases including siblings and an atypical case].
Spondylocostal Dysostosis (sp. c. D.) is characterized by multiple morphological anomalies of the vertebrae and ribs which are frequently fused. This is due to malsegmentation of the axial skeleton probably before the 20th day of embryonic development. There are severe and moderate forms. The etiology is heterogeneous since dominant, and more frequently recessive inheritance has been noted and phenocopies should be expected. Sp. c. D. may be part of a genetic malformation syndrome. Five observations are reported, three typical including sibs, and two atypical ones. The sixth case demonstrates rachischisis anterior (et posterior) of the entire spine.
Abnormalities, Multiple↗
[The Aase syndrome: hereditary autosomal recessive congenital erythropoiesis insufficiency and triphalangeal thumbs].
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Abnormalities, Multiple↗
Atelosteogenesis.
The name atelosteogenesis is proposed for a lethal chondrodysplasia characterized by deficient ossification of various bones, notably the humerus, femur, thoracic spine, and hand bones. Clinically, the patients have micromelic dwarfism with incurvated legs, club feet, often dislocation of the elbows, and, rarely, a cleft palate. The most characteristic radiographic signs are incomplete ossification of the vertebral bodies with coronal clefts of the lumbar and hypoplasia of the upper thoracic vertebral bodies, a distal hypoplasia and club shape of the humerus and the femur, and the lack of ossification of single phalanges and metacarpals in most patients. Histologically, there are clusters of chondrocytes surrounded by fibrous capsules and, more frequently, degeneration zones containing degenerated chondrocytes and copious amounts of metachromatic material in the epiphyses and the basal zone of the growth plate.
Abnormalities, Multiple↗
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34).
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Adolescent↗