Mosaic Turner Syndrome Research Articles

629 SEVERE FACTOR VIII AND FACTOR IX DEFICIENCY IN FEMALES

A survey of eleven hemophilia centers participating in the NHLBI-sponsored “cooperative study of Factor VIII inhibitors developing in hemophiliacs”, produced data concerning 27 females with extremely low levels of factor VIII or IX. Ten of the 27 have hemophilia A, 5 hemophilia B, and 12 have severe von Wille-brand's disease (vWD). The 15 females who have severe F. VIII or F. IX deficiency as an isolated defect exemplify several of the possible genetic explanations for the occurrence of hemophilia in females (dominant inheritance, mosaic Turner's syndrome, abnormality involving X-chromosome, and extreme Lyonization). All 15 bruise excessively and several have had recurrent hemarthroses. Two of these girls, ages 5 and 10 years, have evidence of chronic hemophilic arthropathy and one has twice undergone synovectomy. All twelve females with severe vWD have mucous membrane bleeding. In addition, 5 of the 12 have recurrent hemarthroses and 3 have evidence of chronic joint disease. However, the major problem in the post pubertal females with vWD has been extreme menorrhagia. While one underwent hysterectomy because of this problem the others have been managed with anovulatory drugs or plasma infusions and EACA. Despite menorrhagia, 4 pregnancies and deliveries have been uneventful in two of these women. No unusual bleeding occurred at the time of childbirth; however, when menses began again bleeding was again extreme. This interesting phenomenon may reflect increased levels of F. VIII activity, antigen and ristocetin cofactor activity during pregnancy.

Cytogenetic Studies in Reproductive Loss

Cytogenetic studies were performed on 57 families with pregnancy wastage (eg, two or more spontaneous abortions or stillbirths). Chromosomal abnormalities were ascertained in 17 couples, through offspring with congenital malformations. Seven families had children with neural tube defects, and five families also had a previous child with Down syndrome. One mother had mosaic Turner syndrome; two additional mothers and one father had balanced chromosome translocations. These findings indicate that chromosome analyses should be performed on every couple with repeated miscarriages or malformed children, and subsequent pregnancies at risk should be monitored by amniocentesis.

CYTOGENETIC STUDIES IN PREGNANCY WASTAGE

In a consecutive series of 1,040 families seen in our Genetic Counseling Program, 58 families were referred because of pregnancy loss or wastage (2 or more spontaneous abortions or stillbirths). In 41 families cytogenetic studies were done on both parents and in four instances only the mother was studied. One mother was found to be a mosaic Turner's syndrome (46XX/45X); two mothers and one father were balanced translocation carriers (46XX, t (13q-; 3q+); 46XX t (17p-; 3q+); 46XY, t (4q-; 13+)). Of the 78 parents in whom cytogenetic studies were carried out, five families had children with trisomy 21 in addition to two miscarriages or one miscarriage and a stillbirth. Six families had children with anomalies of the nervous system (anencephalus, hydrocephalus or meningomyelocele). In one mother pregnancy wastage was associated with maternal hyperthyroidism. In two other families fetal wastage, which occurred late during pregnancy, could be attributed to blood group incompatibilities. Thus, in 40 families no obvious cause could be found for fetal loss. The overall percentage of obvious chromosomal abnormalities in our series is approximately 10%, and exceeds previously reported frequencies of significant cytologic aberrations in couples who present with fetal wastage.

The neck in the XO and XX/XO mosaic Turner's syndrome

An attempt to document both the clinical appearance of the neck and the roentgenographic findings of the cervical vertebrae in 15 cytogenetically diagnosed cases of the Turner syndrome rcvealed the following findings: 11 had webbed necks, 13 patients had short necks, and of those, 10 had a short and webbed neck. Fourteen patients had a low hairline, of those, three had a short neck and a low hairline. Ten patients had a webbed and a short neck with a low hairline.Twelve patients had hypoplastic cervical vertebrae, of whom eight showed hypoplasia of all the cervical vertebrae and four showed hypoplasia of one or more cervical vertebrae.

Letter: Mosaic Turner syndrome in a newborn

Letter: Mosaic Turner syndrome in a newborn

Mosaic Turner's syndrome with unusual manifestations

Mosaic Turner's syndrome with unusual manifestations

Mosaic Turner's Syndrome With Unusual Manifestations

<h3>To the Editor.—</h3> Mosaic variants of Turner's syndrome have been reported to occur in about 20% of the cases and they show wide variations in their phenotypes.^1-4This report represents a case of Turner's syndrome with mosaic chromosomal abnormalities and unusual manifestations such as normal ovaries, multiple cardiac anomalies, and partial situs inversus. To our knowledge, the latter two manifestations have not been reported previously. <h3>Report of a Case.—</h3> An infant weighing 2,500 gm was born at 36 weeks gastation on Dec 19, 1969, to a 31-year-old gravida 7, para 2, white mother. Bradycardia (40 to 60 beats per minute) of the baby had been noted in prenatal examinations. Moderate cyanosis, hepatosplenomegaly, and a grade 4/6 systolic murmur were present at birth. The Apgar score was 5. The baby had low-set ears, a low hair line, a short and webbed neck, a shield chest with widely spaced nipples, and

Clinical and chromosomal study of 4 patients with XX-XO mosaicism.

The development of karyotype analysis has provided a rational basis for many previously obscure clinical conditions. It has proved of particular value in chromosomal abnormalities of a mosaic nature, where the clinical expression may not be striking. The present paper describes 4 patients with mosaic Turner's syndrome.