Temporal changes in chromosome abnormality rate in human spontaneous abortions: evidence for an association between sex-chromosome monosomy and trisomy 16

1984 ◽  
Vol 38 (3) ◽  
pp. 200-205 ◽  
Author(s):  
T. Hassold ◽  
C. MacLean
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormality ◽  
Temporal Changes ◽  
Spontaneous Abortions ◽  
Trisomy 16

scholarly journals The XXXXY sex chromosome abnormality.

1966 ◽  
Vol 41 (215) ◽  
pp. 82-86 ◽  
Author(s):  
J. Galindo ◽  
H. S. Baar
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormality

scholarly journals Sex chromosome abnormality in a patient with transsexualism.

BMJ ◽  
1972 ◽  
Vol 3 (5817) ◽  
pp. 29-29 ◽  
Author(s):  
S James ◽  
A Orwin ◽  
D W Davies
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormality

scholarly journals What Parents Are Told After Prenatal Diagnosis of a Sex Chromosome Abnormality: Interview and Questionnaire Study

2001 ◽  
Vol 56 (8) ◽  
pp. 457-458 ◽  
Author(s):  
Lenore Abramsky ◽  
Sue Hall ◽  
Judith Levitan ◽  
Theresa M. Marteau
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Abnormality ◽  
Questionnaire Study

Turner’s Syndrome

2001 ◽  
Vol 14 (s2) ◽  
Author(s):  
Maria Pia Guarneri ◽  
S.A.S. Abusrewil ◽  
S. Bernasconi ◽  
G. Bona ◽  
L. Cavallo ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormality ◽  
Combined Therapy ◽  
Final Height ◽  
Pubertal Development ◽  
Clinical Findings ◽  
High Dose ◽  
Treatment Results ◽  
Gh Therapy ◽  
Growth Deficit

AbstractTurner syndrome (TS) is the most common sex-chromosome abnormality in females. Short stature and hypogonadism are the classical clinical findings. The spontaneous final height (FH) ranges between 139 and 147 cm, representing a growth deficit of about 20 cm with respect to the unaffected population. GH therapy improves FH and should be started during childhood at a high dose of about 1 IU/kg/week (range 0.6-2 IU/kg/week). Some authors advocate combined therapy with an anabolic steroid at various doses (e.g. oxandrolone 0.05-0.1 mg/kg/day). This treatment results in a significantly increased FH, .a large proportion of treated girls reaching a FH of more than 150 cm. Gonadal function is compromised during adolescence in about 80% of girls with TS, whilst in about 20% pubertal development occurs spontaneously. Oestrogen therapy should be started at the age of 13-14 years in hypogonadic patients; early onset of treatment (before 12 years) seems to compromise FH. Other concerns in these patients are fertility and osteopenia.

TURNER'S PHENOTYPE IN THE MALE

PEDIATRICS ◽  
1967 ◽  
Vol 40 (4) ◽  
pp. 575-585
Author(s):  
Pierre E. Ferrier ◽  
Simone A. Ferrier
Keyword(s):  
Basement Membrane ◽  
Chromosome Aberration ◽  
Leydig Cells ◽  
Sex Chromosome ◽  
Chromosome Abnormality ◽  
Interstitial Fibrosis ◽  
Review Of The Literature ◽  
Tubular Basement Membrane ◽  
Laboratory Findings ◽  
Genetic Transmission

The clinical and laboratory findings in four males with the Turner's phenotype are reported. Three of the four patients had some evidence of testicular deficiency. Biopsy in one instance revealed abnormal spermatogenesis, thickening of the tubular basement membrane, interstitial fibrosis, and absence of Leydig cells. The dermatoglyphic findings in three of the four patients were in keeping with those previously reported in females with Turner's syndrome. No chromosome abnormality could be demonstrated, and extensive cytological investigations in one patient failed to produce evidence of sex chromosome mosaicism. Review of the literature suggests that only in a few cases is the Turner's phenotype in the male connected with a sex chromosome aberration. The majority of cases occur sporadically and only exceptionally can a genetic transmission be suspected.

scholarly journals Parental Decisions of Prenatally Detected Sex Chromosome Abnormality

2002 ◽  
Vol 17 (1) ◽  
pp. 53 ◽  
Author(s):  
Yon Ju Kim ◽  
So Yeon Park ◽  
Jung Yeol Han ◽  
Moon Young Kim ◽  
Jae Hyug Yang ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormality ◽  
Parental Decisions

Q-BANDING OF CHROMOSOMES IN HUMAN SPONTANEOUS ABORTIONS

1978 ◽  
Vol 20 (3) ◽  
pp. 415-425 ◽  
Author(s):  
David H. Carr ◽  
Milan M. Gedeon
Keyword(s):  
Sex Ratio ◽  
Sex Chromosomes ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Ring Chromosome ◽  
Banding Technique ◽  
Spontaneous Abortions ◽  
Chromosome Anomalies ◽  
Chromosome 13

Chromosome studies of 242 spontaneous abortions were carried out by Q-banding technique. The abortuses were selected for study because they were phenotypically abnormal, had not progressed beyond 12 weeks development, or were from women with repeated abortions. Chromosome anomalies were found in 126 (52%) of the abortuses. Of these, 71 (56%) were trisomies. Trisomies were found for all the autosomes except Nos. 1, 3, 5, 11, 17 and 18. Triploidy was the second commonest anomaly in this series, making up 26 (21%) of the total anomalies. About 70% of these had an XXY sex chromosome complement. Only 16 (13%) of the abortuses had X monosomy, a lower frequency than would be expected in an unselected study. Tetraploidy was found in 8 abortuses and the 5 remaining specimens had various anomalies. These included 3 translocations, a trisomy 21,X monosomy and a ring chromosome 13. Except for the greater frequency of XXY than XXX sex chromosomes in the triploids, there was no evidence of a distortion of the sex ratio, either among the trisomic or among the chromosomally normal abortuses.

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