Translocation and deletion around SOX9 in a patient with acampomelic campomelic dysplasia and sex reversal.

Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9. Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malformations of thoracic spine, and gonadal dysgenesis with female external genitalia and müllerian duct derivatives in the presence of a male karyotype. X-ray examination and clinical examinations revealed no signs of campomelia. The combination of molecular cytogenetic analysis and array CGH revealed an unbalanced translocation between one chromosome 7 and one chromosome 17 [46,XY,t(7;17)(q33;q24).ish t(7;17)(wcp7+,wcp17+;wcp7+wcp17+)] with a deletion of approximately 4.2 Mb located about 0.5 Mb upstream of SOX9. STS analysis confirmed the deletion of chromosome 17, which has occurred de novo on the paternal chromosome. The proximal breakpoint on chromosome 17 is localized outside the known breakpoint cluster regions. The deletion on chromosome 17q24 removes several genes. Among these genes PRKAR1A is deleted. Inactivating mutations of PRKAR1A cause Carney complex. To our knowledge, this is the first report of a patient with acampomelic campomelic dysplasia, carrying both a deletion and a translocation.

Chimerism in a fertile woman with 46,XY karyotype and female phenotype.

We report on the unexpected finding of a 46,XY karyotype in a 30 year-old woman with normal ovarian function and a former pregnancy at 17 years of age. Chromosome analysis was performed prior to intracyoplasmic sperm injection (ICSI), due to infertility of her husband. Repeated chromosome analysis in lymphocytes of the female resulted in a normal male karyotype. Fluorescence in-situ hybridization (FISH) analysis of cultured lymphocyte interphase nuclei detected in 99% of the cells one X and one Y chromosome-specific signal respectively, whereas two X chromosome-specific signals were observed in only 1% of the nuclei. Chromosome analysis of fibroblasts of ovarian and muscular tissues as well as of skin revealed a normal female karyotype (46,XX). Chimerism could be proven by variable number of tandem repeats (VNTR) analysis. Since the case history of the patient revealed that her twin brother died shortly after birth, it can be assumed that chimerism is caused by feto-fetal transfusion during pregnancy and delivery of the proposita.

[The effect of food supplements on the bioavailability of breast milk for premature infants--fecal fat and carbohydrate excretion]. / Der Einfluss von Nahrungssupplementen auf die Bioverfügbarkeit der Frauenmilch für Frühgeborene. Die faecale Fett und Kohlenhydratexkretion.

Faecal excretion of fat and carbohydrates was studied in 14 preterm infants fed on raw mother's milk (group I) or banked fortified human milk (group II) at days 7, 14, 21 and 28 of postnatal life: group I: n = 5; 31.0 +/- 2.0 weeks; 1954 +/- 441 g; group II: n = 9; 32.0 +/- 1.0 weeks; 1806 +/- 176 g. Mixtures of amino acids, peptides, minerals, dextrine and maltose were designed for fortifying banked human milk. There were no significant differences between faecal excretion of fat and carbohydrates in both feeding groups. The investigated human milk fortifier helps to realize the protein-energy ratio needed in preterm infants with well tolerable volumes of feeding and without stressing their limited digestive capacity.