Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 9/genetics , Fetus/chemistry , Fetus/physiology , Gonadal Dysgenesis, 46,XX/genetics , Gonadal Dysgenesis, 46,XY/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Abortion, Therapeutic/methods , Disorders of Sex Development , Female , Genitalia/abnormalities , Gestational Age , Gonadal Dysgenesis, 46,XX/diagnosis , Gonadal Dysgenesis, 46,XY/diagnosis , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Pregnancy , Pregnancy Trimester, Second , Prenatal Diagnosis , Telomere/genetics , Testis/chemistry , Testis/physiologyABSTRACT
Two cases, in children of distinct families, of a particular form of "dry syndrome", are described. This syndrom, which associates xerophthalmy, xerostomy and cutaneous dryness, is congenital and familial. He looks different from previously described diseases or syndroms which include one or several of these three components.
Subject(s)
Skin Diseases/congenital , Xerophthalmia/congenital , Xerostomia/congenital , Child , Diagnosis, Differential , Female , Humans , Male , Skin Diseases/genetics , Syndrome , Xerophthalmia/genetics , Xerostomia/geneticsSubject(s)
Dry Eye Syndromes/congenital , Xerophthalmia/congenital , Xerostomia/congenital , Child , Diagnosis, Differential , Dry Eye Syndromes/genetics , Dry Eye Syndromes/pathology , Female , Humans , Male , Pedigree , Xerophthalmia/genetics , Xerophthalmia/pathology , Xerostomia/genetics , Xerostomia/pathologySubject(s)
Abnormalities, Multiple , Chromosome Aberrations/genetics , Chromosome Disorders , Sex Chromosomes , Black People , Craniofacial Dysostosis/genetics , Eyebrows/abnormalities , Eyelids/abnormalities , Hand Deformities, Congenital , Humans , Infant , Intellectual Disability/genetics , Male , Micrognathism/genetics , Sex Chromosome Aberrations , Toes/abnormalitiesSubject(s)
Dysgerminoma/genetics , Ovarian Neoplasms/genetics , Adolescent , Amenorrhea/etiology , Biopsy , Cytogenetics , Dysgerminoma/pathology , Female , Humans , Karyotyping , Laparotomy , Ovarian Neoplasms/pathology , PhenotypeABSTRACT
PIP: Growth and karyotype of cultured rat and rabbit tissues were observed for 40 days in presence of ethynodiol diacetate, norethynodrel, or mestranol. 2 lines of 15-day-old Wistar rat embryo, 1 rabbit embryo line from the Fauve de Bourgogne strain, and 1 from a nonselected strain were cultured in medium 199 with 20% fetal calf serum, subcultured weekly, and medium changed every other day. Drugs were added in the following concentrations: .03, .09, .15, and 1 mg per 100 ml ethynodiol diacetate; .03, .06, .09, .12, .15, .21 and 1 mg per 100 ml norethynodrel; and .0003, .0009, .0012 and .01 mg per 100 ml mestranol. In rat cultures growth and replication rates were not changed. In rabbit cultures concentrations of 1 mg per 100 ml norethynodrel and of ethynodiol diacetate killed the cells, but at concentrations of .21 mg per 100 ml or below there was no effect on the growth curve. Karyotypes studied on Day 40 showed the same frequency of polyploidy and aneuploidy as in controls, less than 10%, and chromosomes appeared normal.^ieng
