Biomedical subjects
Publications and source records attributed to C Maximilian.
A 6 8/12-year-old girl with severe mental retardation, multiple congenital malformations and a de novo distal deletion of the long arm of chromosome 1 [del 1 (q43-->qter)] is here described. A review of the reported patients does not allow to distinguish different phenotypes related to distal deletion 1q42 and/or 1q43.
On the occasion of the observation of the Onycho-osteo-dysplasia syndrome (HOOD syndrome--Nail-Patella syndrome) in a 4-generation family we were impressed by the presence of a Madelung deformity in the four examined family members. A critical review of the literature showed that a true Madelung deformity was present in a great number of previously reported patients but that no specific attention was given to this apparently important symptom.
We present a family with four children in which three, a girl and two boys, present a similar MR/MCA syndrome with slight to moderate mental retardation, short stature, peculiar facies with palpebral ptosis, pectus excavatum and pulmonary stenosis. As both parents are mentally and physically normal, autosomal recessive inheritance of this Noonan-like phenotype is most likely. The findings in the present family confirm that the Noonan phenotype may be caused by different etiologies with different types of genetic transmission.
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A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).
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Three sisters with gonadoblastoma and an 46,XY karyotype are presented. This observation suggests that heredity may play an important role in the genesis of the tumour.
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A 22-year old female patient with psycho-motor retardation, statural hypotrophy and clinical picture characteristic of the 9p deletion syndrome, i.e., trigonocephalia (corrected surgically), epicanthus, hypertelorism, long filtrum, micrognathia, low inserted and malformed ears, filiform fingers, is presented.
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The concentration of zinc and copper in the plasma and the erythrocytes of 24 children with Down's syndrome was measured and compared with the values in a control group of normal children. Zinc and copper were determined in this biologic material by flame atomic absorption spectrophotometry. A significant (p less than 0.001) decrease of the plasma zinc content well as an increase of copper (p less than 0.024) and zinc (p less than 0.001) in the erythrocytes of Down's syndrome patients were found. The possible mechanisms of these changes are discussed.
Two new cases of leprechaunism are reported, one of which from consanguinous parents. Both cases show the clinical picture characteristic of this syndrome: severe pre- and postnatal growth failure, psychic backwardness, lack of adipose tissue, cutis laxa; elf-like face, large ears, globular eyes, hypertelorism, micrognathia and various degrees of external genitalia hypertrophy. Endocrinologically, one of the patients shows the syndrome of low T3. The role of the endocrine alterations in the etiology of the syndrome is discussed.
From a pre-selected series of couples with reproductive failure, the authors are presenting 4 couples in which one of the members has an extra marker chromosome in mosaic with a normal line. The relationship between the caryotype and the reproductive failure of these couples is discussed.
A series of 300 couples with reproductive failure, i.e. 100 couples with a history of 2-4 spontaneous abortions (lot 1) and 200 couples with abortions and one or several dead plurimalformed children (lot 2) were cytogenetically investigated. The incidence of major chromosomal aberrations was 7% (lot 1) and 5.5% (lot 2) and minor aberrations 13% (lot 1) and 5% (lot 2). The mean percentage of chromosmal aberrations in the 300 couples was 6.03%, a figure which is close to the one reported in the literature of the recent years, i.e.6.1%.
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Clinical, genetic and endocrine findings in a male patient aged 27, diagnosed as a "Cat Eye" syndrome bearer are presented. Clinically the patient shows: moderate psychic retardation, high forehead, epicanthus, strabismus, microretrognathism, large, low inserted ears, kypho-scoliosis, genu valgum; mild hypothyroidism. Cytogenetic examination reveals the presence of an additional small acrocentric chromosome.