A sterile male with 45,X0 and a Y;22 translocation.

Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G- and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hybridization with the Yp-derived probe pJA36B disclosed a translocation of Y-chromosomal material onto the short arm of a chromosome 22.

Partial trisomy 22q12----qter in prenatal diagnosis.

Ultrasound examination of a 27-year-old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious metacentric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12----qter. Eight live-born and severely malformed infants with this duplication have been reported in the literature.

[Cytogenetic study of peripheral lymphocyte culture in couples with habitual abortion]. / Zygogenetische Untersuchung von peripheren Lymphozytenkulturen bei Paaren mit habituellen Aborten.

We report on a cytogenetic investigation of lymphocytes in 241 couples and six women with at least three abortions. We found a balanced reciprocal translocation three times (1.2% of couples) and a balanced Robertsonian translocation twice (0.8% of couples). Four numerical aberrations of the gonosomes were detected (three of them as a mosaic), and one deletion Xq- as a mosaic. The heterochromatic region of the chromosomes 1, 9 or 16 was enlarged in 12 couples (4.9%). There was no couple with a pericentric inversion of the chromosomes 1 or 9. The enlarged Y-chromosome (five males) according to our results does not play any important role for the reproduction. Five translocations and one supernumerary chromosome each in one cell only indicate an enlarged frequency of breakage events in couples with habitual abortion.

[Ehlers-Danlos syndrome and pregnancy]. / Ehlers-Danlos-Syndrom und Schwangerschaft.

There is reported about pregnancy and delivery of a 31 year old woman with Ehlers-Danlos syndrome type VIII. In the present case there were no complications. Occurrence of perilous injuries in other subtypes is discussed.

[Autologous frozen sperm--an alternative in infertility in the patient with invasively treated testicular tumor?]. / Autologes Kryosperma--eine Alternative bei Infertilität des invasiv behandelten Hodentumorpatienten?

Through an optimal treatment of testicular cancer the life expectancy of patients is improved, but more early and late complications were observed after different therapeutic procedures and mainly fertility problems come to the fore. In 70% of the patients (n = 30) an abnormal spermiogram was found prior to treatment. At this time 54% of all patients with testicular cancer (n = 61) were 20 to 30 years old and 43% of these patients wish to have a child. After radical retroperitoneal lymph node dissection in 71% of cases (n = 45) a total or partial loss of ejaculation was found. The cytostatic chemotherapy and radiation treatment are the cause of reversible or irreversible reduction in spermatogenesis and possibly mutagenic alterations. There are several alternatives to treat the infertility problems of cured testicular cancer patients and autologous insemination is favoured by the half of these patients. In our experience with cryopreserved sperm (n = 22) only patients with appropriate sperm quality (greater than 10 Mill. sperms/ml, greater than 30% mobile sperms, greater than 30% thaw motility) are suited to this method. In consideration of these parameters only 25% of testicular cancer patients are suited for long-term sperm preservation. The technical problems of sperm preparation, storage and autologous insemination are described in detail.

A new case of deletion 1q42 syndrome.

We report a 1 8/12-year-old male with a de novo deletion of 1q42. The case is compared with 23 others from the literature. The clinical manifestations of our patient correspond with the phenotype of previous reports.

[7p-deletion syndrome]. / 7p-Deletions-Syndrom.

A similar pattern of dysmorphic features and congenital malformations was found in two infants, one with a larger terminal deletion of 7p13-pter and the other with a smaller interstitial deletion of 7p13-p15. The more prominent features of the syndrome include plagioturricephaly (which is caused by premature asymmetric closure of the frontal and coronal sutures), osseous defects of the parietal bones, short fingers, proximally implanted thumbs (in both), microphthalmia, congenital heart defect, and hydronephrosis (one). In addition, both patients revealed intrauterine and postnatal growth retardation and pronounced mental deficits.