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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Ten cases of transsexualism have been studied. All the patients present gonadal lesions, modifications of the morphotype and small hormonologic anomalies. It is supposed that the gonadal lesions are frequently associated with this psycho-behavioural disorder. Thus transsexualism may be considered a trouble of the whole process of post gonadal sexualization.
One hundred couples in whom the females had experienced multiple spontaneous abortions were studied. In this series three women with 45, X/46,XX were observed. The paper discusses the significance of this observation pointing out to the fact that these women run an increased risk of abortion of giving birth to babies with Turner's syndrome.
The authors present a family in which the father has brachymetacarpy and brachymetatarsy and the mother has a 13/20 translocation. A baby was born with multiple malformations similar to the trisomy syndrome for the short arms of chromosome 20. The genetic consequences of the translocation are discussed.