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

Abstract

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

Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men

“…Translocations of Y chromosome material to autosomes such as chromosome 14 [ 46 ] and chromosome 21 [ 47 ] are very rarely described. In the case described by Petit et al [ 46 ], a small piece of the long arm of chromosome Y was translocated to chromosome 14.…”

“…In the case described by Hillman et al . [ 47 ], the short arm, the centromere, and the proximal part of the long arm of the Y chromosome were completely missing, while the distal part of the long arm was translocated to chromosome 21. The female patient had severe Potter syndrome stigmata and died at 4.5 hours of age.…”

Y/autosomal translocations

“…Most of the reported cases with presumptive Y/autosomal translocation have been ascertained because of some phenotypic abnormalities. The case described by Hrei-darsson et al (1973) had Klinefelter's syndrome, and the one described by Hillman et al (1974) had Turner's syndrome. Some of the other cases were described as mentally retarded or as having various congenital abnormalities.…”

A case of a reciprocal translocation between the Y and No. 1 chromosomes

“…Karyotypes of both parents were normal. (Table 1); Y/15 (Noel et al, 1971 ;Frund et al, 1972;Pfeiffer et al, 1973;Hreidarsson et al, 1973;Hahnemann and Eiberg, 1973;Nielsen et al, 1974;Subrt and Blehovgt, 1974;Nielsen and Rasmussen, 1976), Y/22 (Reitalu, 1973;Lundsteen and Philip, 1973;Nielsen and Rasmussen, 1976), Y/2 (van den Berghe et al, 1973), Y/5 (Dutrillaux and Gueguen, 1975), Y/6 (Wisniewski and Higgins, 1977), Y/7 (Develing et al, 1973;Turleau et al, 1976), Y/13 (Gilgenkranz et al, 1973;Curtis, 1977), Y/14 (Krmpotic et al, 1972;Laurent and Dutrillaux, 1976), Y/16 (Park et al, 1974;Warter and Ratel, 1976), Y/21 (Hillman et al, 1974). To our knowledge, our case is the first report of a Y/1 translocafion.…”