Double mosaic aneuploidy: 45, X/47,XY,+8 in a male infant

Abstract

We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis

“…He had hydrocephaly associated with penoscrotal transposition and oligodactyly, which had never before been reported to be associated in the same patient with this syndrome, although hydrocephalus with or without ambiguous genitalia has been previously reported [Seabright et al, 1979;Chung et al, 2001]. Penoscrotal transposition has been reported as isolated, in association with other malformations or as part of the caudal deficiency sequence [Anlar and Ayabakan, 1986;Lage et al, 1987;Turnock and Brereton, 1991;MacKenzie et al, 1994], as well as in association with a mosaic trisomy 8 karyotype and other chromosomal anomalies, including deletion of 13q [Schofield et al, 1992;Karna and Kapur, 1994;Schinzel, 2001].…”

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

“…The combination of monosomy X with [Cohen and Davidson, 1972;Schinzel et al, 1974;Hustinx et al, 1974;Prieur et al, 1972Prieur et al, , 1976Serville et al, 1977;Knudtzon et al, 1988;Eiben et al, 1989;Schofield et al, 1992;Franceschini et al, 1996;Mielke et al, 1997;Harada et al, 1998;Genuardi et al, 1999;Schubert et al, 2002;Cogulu et al, 2002], but the combination with trisomy 7 has not. Clinical findings in these patients are summarized in Table II.…”

Retrieval of aneuploidy by fish-technique in a case with 46,XX/47,XXX/47,XX,+8

“…Double aneuploidy involving a sex chromosome with autosomes is a rare occurrence, but cases with trisomy 8 syndrome (46,XX/48,XXY,+8) ambiguous genitalia (45X/48,XXY, + 8) with numerous dysmorphic features and neurological anomalies (47,XY,+8/48,XXYY) have been reported (Casey et aL, 1981;Tegenkamp et al, 1980;Hoovers et al, 1989;Schofield et a[, 1992). Needless to say, when compared with other trisomy 8 syndrome, this individual had unusual clinical manifestation and was referred to us originally to rule out mosaic Turner syndrome.…”