A 48,XYYY Male: A Somatic and Psychiatric Description

Hunter, Henry; Quaife, R

doi:10.1136/jmg.10.1.80

Cited by 25 publications

(13 citation statements)

References 8 publications

(1 reference statement)

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“…Despite the evidence that spermatogonia and/or spermatocytes with an additional Y chromosome are selected against during gametogenesis [Melnyk et al, 1969;Chevret et al, 1997], XYY germ cells can complete meiosis and produce disomic spermatozoa [Blanco et al, 1997]. Several cases of transmission of an extra Y chromosome from father to son have been reported [Hanter and Quaife, 1973;Le Marec et al, 1977]. However, the majority of fathers of offspring with XYY have normal chromosomes.…”

Section: Mechanisms Of Age-independent Double Trisomiesmentioning

confidence: 92%

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Kovaleva

Mutton

2005

Am. J. Med. Genet.

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The chance of two chromosome abnormalities occurring in one conceptus is very small. However, some authors have suggested that double aneuplodies (DAs) might be more common than the product of their individual frequencies. The nonrandomness of such DA events was considered to be evidence that nondisjunction (NDJ) may be genetically determined. Data collected from the National Down syndrome Cytogenetic Register (NDSCR) in England and Wales and from the literature indicate that the frequencies of all nonmosaic DAs, except for 48,XXY,+21, are lower than expected, probably because of strong intrauterine selection against such pregnancies. Collectively, we identified 52 cases of nonmosaic 48,XXY,+21; 28 cases of 48,XYY,+21; and 14 cases of 48,XXX,+21 in liveborns and 13 cases of 48,XXY,+21; four cases of 48,XYY,+21; and two cases of 48,XXX,+21 after prenatal diagnoses. Among these cases, analysis of the published unbiased cytogenetic surveys of liveborn DS revealed 24 cases of 48,XXY,+21; nine cases of 48,XYY,+21; and seven cases of 48,XXX,+21. These figures are different from the expected proportion of 1:1:1 (P < 0.001), with carriers of XXY overrepresented in the group of carriers of DA. Mechanisms put forth to account for the higher occurrence of 48,XXY,+21 may include greater accessibility of disomic ovum to Y-carrying sperm, and promotion of NDJ in ovum by Y-bearing sperm. 48,XXY,+21 DA was found to be age-dependent, as the proportion of mothers over age 35 (x = 33.0) was increased over the general population. This is in contrast to the apparently age-independent 48,XYY,+21 DA, with a mean maternal age of 24.7 (P < 0.001). Paternal ages were also remarkably different between the groups, with a mean age of 37.9 in 48,XXY,+21 cases and a mean age of 27.9 in 48,XYY,+21 cases (P < 0.01). Maternal age-related factors, rather than genetic predisposition, may play a more important role in the etiology of the most common DA, 48,XXY,+21.

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Section: Mechanisms Of Age-independent Double Trisomiesmentioning

confidence: 92%

Epidemiology of double aneuploidies involving chromosome 21 and the sex chromosomes

Kovaleva

Mutton

2005

Am. J. Med. Genet.

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“…Intelligence is usually in the low normal range and most affected adults have hypogonadism with azoospermia. Behavior problems have been reported [Hunter and Quafie, 1973]. Yet it is difficult to ascribe a specific phenotype to patients with extra Y chromosomes.…”

Section: Introductionmentioning

confidence: 97%

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

et al. 1998

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Sex chromosome abnormalities, such as 47,XXX, 47,XXY, 47,XYY, and 45,X, are relatively common and occur in approximately 1 of 400 births. Sex chromosome tetrasomy and pentasomy are much rarer events. The somatic and developmental consequences of supernumerary sex chromosomes have not been studied adequately. This is especially true of individuals with only supernumerary Y chromosomes. Based on available case reports, the effects of extra Y chromosomes appear not as severe as those of supernumerary X chromosomes. Only two case reports of nonmosaic tetrasomy of the Y chromosome have been published. We evaluated a 30-year-old man with a 49,XYYYY karyotype and assessed his severe physical and mental handicaps (particularly the endocrine abnormalities) and attempted to clarify the effects of extra Y chromosomes on growth, development, and behavior.

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“…A sinogram showed that the "urethra" communicated by an apparently normal vagina with the uterine cavity. At age 4 years, the child was at the 6th centile for Schoepflin and Centerwall, 1972;Hunter and Quaife, 1973;Ridler et al, 19731. These male patients ranged in age from 5 years to adulthood.…”

Section: Discussionmentioning

confidence: 99%