Isochromosome Y [46, X, i(Yq)] and female phenotype

Böök, J. A.; Eilon, Batia; Halbrecht, I; Komlos, L.; F, Shabtay

doi:10.1111/j.1399-0004.1973.tb01168.x

Clinical Genetics

1973

DOI: 10.1111/j.1399-0004.1973.tb01168.x

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Isochromosome Y [46, X, i(Yq)] and female phenotype

J. A. Böök

Batia Eilon²,

I Halbrecht³

et al.

Abstract: A 26‐year‐old patient with female phenotype and the karyotype 46, x, i (Yq) is described. She had no breast, and a rudimentary uterus and streak gonads were present. Apart from a rather deep voice, no signs of masculinization were observed, nor did she display any of the stigmata usually associated with Turner's syndrome. The Yq chromosome was identified conclusively by the Giemsa C‐banding technique. The function of the Y chromosome is discussed briefly, and it is concluded that the factors determining or reg… Show more

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Cited by 21 publications

References 8 publications

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Y/21 Translocation With Gonadal and Renal Dysgenesis and Cardiac Rupture

Hillman¹,

Sekhon²,

Kaufman³

et al. 1974

Arch Pediatr Adolesc Med

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An infant with clinical features of Potterand Turner syndromes at birth was found to have a translocation of a portion of the long arm of a Y chromosome to a 21 chromosome, and only one X chromosome. The infant had bilateral dysplastic kidneys and hypoplastic lungs and suffered spontaneous rupture of the heart and pneumothoraces. Except for gonads with persistent sex cords and a solitary degenerating follicle, the genital organs were female. The sexual differentiation is compatible with the theory that the short arm of the Y chromosome is mainly responsible for male differentiation but implies that the long arm is not without effect on gonadal development. The occurrence of severe renal abnormalities in an infant with a sex chromosome abnormality may be more than coincidental.The association of pulmonary hy¬ poplasia with bilateral renal agen¬ esis was noted by Potter in 1946. ' In 1960, Bain and Scott described similar pulmonary hypoplasia with other se¬ vere renal abnormalities, mainly bi¬ lateral cystic dysplasia and severe congenital obstructions.2 Stern et al emphasized that as a result of the se¬ vere pulmonary hypoplasia, many of these infants had pneumothorax and pneumomediastinum.3 In all series, there has been a preponderance of males. Renal anomalies are common in XO Turner syndrome.46 We report the occurrence of bilateral renal dysgenesis, pulmonary hypoplasia and bilateral pneumothoraces, and spontaneous rupture of the heart in

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Y/21 Translocation With Gonadal and Renal Dysgenesis and Cardiac Rupture

Hillman¹,

Sekhon²,

Kaufman³

et al. 1974

Arch Pediatr Adolesc Med

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Phenotype/Karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases

1994

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Over 600 cases with a Y aneuploidy (other than non-mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism 45,X/46,XY (79 cases), 45,X/47,XYY (8 cases), and 45,X/46,XY/47,XYY (6 cases), all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. This review includes 11 cases of 46,XYp-; 90 cases of 46,XYq- (52 cases non-mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 cases non-mosaic and 25 cases 45,X mosaic); 8 cases of 46,X,i(Yp) (4 non-mosaic and 4 mosaic with 45,X); 12 cases of 46,X,i(Yq) (7 non-mosaic and 5 mosaic); 44 cases of 46,X,idic(Yq); 80 cases of 46,X, idic(Yp) (74 cases had breakpoints at Yq11 and 6 cases had breakpoints at Yq12); 130 cases of Y/autosome translocations (50 cases with a Y/A reciprocal translocation, 20 cases of Y/A translocation in 45,X males, 60 cases of Y/DP or Y/Gp translocations); 52 cases of Y/X translocations [47 cases with der(X); 4 cases with der(Y), and 1 case with 45,X with a der(X)], 7 cases of Y/Y translocations; 151 postnatally diagnosed cases of 45,X/46,XY; 14 postnatally diagnosed cases of 45,X/47,XYY; 18 cases of 45,X/46,XY/47,XYY; and 93 aforementioned prenatally diagnosed cases with a 45,X cell line. It is clear that in the absence of a 45,X cell line, the presence of an entire Yp or a region of it including SRY would lead to a male phenotype in an individual with a Y aneuploidy, whereas the lack of Yp invariably leads to a female phenotype with typical or atypical Ullrich-Turner syndrome (UTS). Once there is a 45,X cell line, regardless of whether there is Yp, Yq, or both Yp and Yq, or even a free Y chromosome in other cell line, there is an increased chance for that individual to be a phenotypic female with UTS manifestations or to have ambiguous external genitalia. This review once again shows a major difference in reported phenotypes between postnatally and prenatally diagnosed cases of 45,X/46,XY, 45,X/47,XYY, and 45,X/46,XY/47,XYY mosaicism. It appears that ascertainment bias can explain the fact that all known patients with postnatal diagnosis are phenotypically abnormal, while over 90% of prenatally diagnosed cases are reported to have a normal male phenotype. Further elucidation of major Y genes and their clinical significance can be expected in the rapidly expanding gene mapping projects. More, consequently better, phenotype/karyotype correlations can be anticipated at both the cytogenetic and the molecular level.

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Isochromosome for the long arm of the Y in an infertile male

Ezrin

1978

Hum Genet

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Isochromosome Y [46, X, i(Yq)] and female phenotype

Cited by 21 publications

References 8 publications

Y/21 Translocation With Gonadal and Renal Dysgenesis and Cardiac Rupture

Y/21 Translocation With Gonadal and Renal Dysgenesis and Cardiac Rupture

Phenotype/Karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases

Isochromosome for the long arm of the Y in an infertile male

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