An adult with 49,XYYYY karyotype: Case report and endocrine studies

Shanske, Alan; Sachmechi, Issac; Patel, Dinesh Kumar; Bishnoi, Alka; Rosner, Fred

doi:10.1002/(sici)1096-8628(19981102)80:2<103::aid-ajmg2>3.3.co;2-t

Cited by 8 publications

(11 citation statements)

References 5 publications

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“…Those from Van den Berghe et al [1968] (86%), Plauchu et al [1984] (96.7%), and Kyriakakos et al [1995] (93.5%) are cases with tetrasomy Y representing the major cell line within a mosaic. Finally, the cases reported by Sirota et al [1981], Noël et al [1988], and Shanske et al [1998] are nonmosaic cases. While no pentasomy Y has been reported, Das et al [1993] have reported a 49,XXYYY patient.…”

Section: Discussionmentioning

confidence: 91%

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Tetrasomy Y by structural rearrangement: Clinical report

et al. 2002

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Poly-Y karyotypes, except for 47,XYY, are rare events in humans. For instance, Y chromosome tetrasomy has been reported 10 times, 2 of which were by structural rearrangement. We present a 2-year-and-4-month-old boy who was referred for cytogenetic assessment because of global psychomotor delay. The GTG- and CBG-banded karyotypes on PHA-stimulated lymphocytes showed two cell populations, one of them contained two identical isodicentric Y chromosomes, which was seen in 93% of metaphases analyzed, and a 45,X cell line (7%). This was confirmed by FISH with probes DYZ3 (recognizing the centromeric region of the Y chromosome), 91H4.5 (recognizing Yp11.2), and DYZ1 (recognizing Y heterochromatin in Yq12). The breakpoint has occurred near the telomeric end of the heterochromatic region. Therefore, the karyotype is mos 47,X,idic(Y)(q12)x2[123]/45,X[9]. This is the second time that such a karyotype has been reported. This chromosomal anomaly was formed most likely by a U-type exchange. Clinical features included speech delay, short stature, brachycephaly, large ears, bilateral epicanthal folds, hypertelorism, delayed teeth eruption, bilateral radio-ulnar synostosis, bilateral fifth finger clinodactyly, normal external genitalia, and impulsive behavior. The father had normal phenotype and karyotype. A review of the tetrasomy Y patients is presented. All patients with Y chromosome tetrasomy exhibit some degree of mental retardation, various skeletal abnormalities, and facial dysmorphism. Nevertheless, the correlation between karyotype and phenotype is not yet well defined since few cases have been reported. This clinical report will be helpful in defining the phenotypic range associated with tetrasomy Y.

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Section: Discussionmentioning

confidence: 91%

“…One adult with tetrasomy Y (aged 30) was described previously with hypogonadism and infertility [Shanske et al, 1998]. All other patients were young boys with normal genitalia.…”

Section: Discussionmentioning

confidence: 99%

Tetrasomy Y by structural rearrangement: Clinical report

et al. 2002

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“…CT scan results were reported in a 22-yearold nonmosaic 49,XYYYY male who appeared to be having moderate to severe intellectual disability. Although he had normal head size in the 75th centile, CT scan results showed bilateral ventricular enlargement and diffuse cortical atrophy [Shanske et al, 1998]. A postmortem report from a 28-weekold 49,XYYYY fetus also found abnormalities, including a hypoplastic corpus callosum and a small cerebellum with a large cyst [Frey-Mahn et al, 2003].…”

Section: Scas With More Than One Additional X or Y Chromosomementioning

confidence: 99%

Effects of sex chromosome aneuploidies on brain development: Evidence from neuroimaging studies

Lenroot

Lee

Giedd

2009

Dev Disabil Res Revs

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Variation in the number of sex chromosomes is a relatively common genetic condition, affecting as many as 1/400 individuals. The sex chromosome aneuploidies (SCAs) are associated with characteristic behavioral and cognitive phenotypes, although the degree to which specific individuals are affected can fall within a wide range. Understanding the effects of different dosages of sex chromosome genes on brain development may help to understand the basis for functional differences in affected individuals. It may also be informative regarding how sex chromosomes contribute to typical sexual differentiation. Studies of 47,XXY males make up the bulk of the current literature of neuroimaging studies in individuals with supernumerary sex chromosomes, with a few small studies or case reports of the other SCAs. Findings in 47,XXY males typically include decreased gray and white matter volumes, with most pronounced effects in the frontal and temporal lobes. Functional studies have shown evidence of decreased lateralization. Although the hypogonadism typically found in 47,XXY males may contribute to the decreased brain volume, the observation that 47,XXX females also show decreased brain volume in the presence of normal pubertal maturation suggests a possible direct dosage effect of X chromosome genes. Additional X chromosomes, such as in 49,XXXXY males, are associated with more markedly decreased brain volume and increased incidence of white matter hyperintensities. The limited data regarding effects of having two Y chromosomes (47,XYY) do not find significant differences in brain volume, although there are some reports of increased head size.Keywords sex chromosome; aneuploidy; neuroimaging; brain; development Sex is the single greatest discriminating morphometric factor in biology [Ropers and Hamel, 2005]. Overall brain size in humans is robustly dimorphic, with males having an approximately 10% greater volume. Sexual dimorphism of the developing brain is especially pertinent for child psychiatry, given that nearly all neuropsychiatric disorders of childhood demonstrate striking sex differences with respect to age of onset, prevalence, and symptom patterns [Giedd et al., 1997]. Factors giving rise to sexual dimorphism may thus also act as risk factors or protective agents for neurodevelopmental disorders, and understanding the development of sexual dimorphism may provide insights into the pathogenesis of neurodevelopmental disorders. NIH Public Access Author ManuscriptDev Disabil Res Rev. Author manuscript; available in PMC 2010 December 3. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptBiological contributions to sex differences include sex differences in gonadal secretions that affect the brain and direct effects of the sex chromosome genes. The relative ease of manipulating hormone levels in animal models has led to a preponderance of literature and discussion about the effects of hormones on the brain. However, a growing body of literature [Arnold, 2004] is now suggesting that differ...

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“…Individuals with more than one supernumerary Y chromosome are presumably very rare [Mazauric‐Stuker et al, 1992; Shanske et al, 1998]. We are aware of only three published cases with an apparently non‐mosaic 49,XYYYY chromosome count [Sirota et al, 1981; Noel et al, 1988; Shanske et al, 1998]. Plauchu et al [1984] reported an additional patient with four Y chromosomes in the overwhelming majority of cells investigated and a second cell line with three Y chromosomes.…”

Section: To the Editormentioning

confidence: 99%

“…Clinical information on affected individuals is very limited due to the small number of observations (Table I). The only brain anomalies diagnosed so far were dilated lateral ventricles and cortical atrophy [Shanske et al, 1998]. A unilateral porencephalic cerebral cortical cyst was reported, however, in a fetus after prenatal diagnosis of 45,X/48,XYYY mosaicism and termination of pregnancy at 20 weeks gestation [Bryke et al, 1989].…”

Section: To the Editormentioning

confidence: 99%