Abnormal Sex Chromosomes and Mental Disorder

Polani, P. E.

doi:10.1038/223680a0

Cited by 69 publications

(45 citation statements)

References 63 publications

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“…So first, Polani (1977) and others have discussed decreased cell-division rates in SCA syndromes as a probable explanation of the phenotype as reflected in dermatoglyphics 113 and reduced brain volumes 114,115 in SCA. 25,116 The cell cycle slows down in cases with an extra X chromosome 117 and in other cells with an extra chromosome in humans 117,118 as well as in yeast 119 and in seedlings.…”

Section: Discussionmentioning

confidence: 99%

“…25,116 The cell cycle slows down in cases with an extra X chromosome 117 and in other cells with an extra chromosome in humans 117,118 as well as in yeast 119 and in seedlings. 120 DNA replication is apparently the rate-limiting step in the cell cycle.…”

Section: Discussionmentioning

confidence: 99%

“…We scrutinized references for every paper, book, etc. This was necessary to find papers from the Oldmedline database, 13,23,24 chapters of books 25 and theses, [26][27][28] etc. 29 When referring to reviews, we did not refer to any references mentioned therein to keep this paper as concise as possible.…”

Section: In Briefmentioning

confidence: 99%

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Triple X syndrome: a review of the literature

Otter¹,

2009

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The developmental and clinical aspects in the literature on triple X syndrome are reviewed. Prenatal diagnosis depends on karyotyping. The incidence is 1 of 1000 females. At birth, 47,XXX girls have a lower mean birth weight and a smaller head circumference. Triple X diagnosis was not suspected at birth. The maternal age seems to be increased. Toddlers with triple X syndrome show delayed language development. The youngest girls show accelerated growth until puberty. EEG abnormalities seem to be rather common. Many girls show motor-coordination problems and auditory-processing disorders are not rare. Scoliosis is probably more common in adolescent cases. The IQ levels are 20 points below that of controls, and verbal IQ is lowest. The girls struggle with low self-esteem and they need psychological, behavioural and educational support. They perform best in stable families. After leaving school they seem to feel better. In adults, premature ovarian failure seems to be more prevalent than in controls. MRIs of the brain seem to show decreased brain volumes. The 47,XXX women most often find jobs that reflect their performance abilities. Psychotic illness seems to be more prevalent in triple X adult women than in controls. Psychotic disorders respond well to psychotropic drugs. Triple X adults suffer more frequently from cyclothymic and labile personality traits.Research on triple X syndrome may yield more insight into brain and behaviour relations, developmental psychopathology, auditory-processing disorders, EEG disorders, personality and psychotic disorders, etc.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Triple X syndrome: a review of the literature

Otter¹,

2009

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“…Early chromosome screening studies established an increased incidence of SCA in prison, mental, and mental-penal populations, suggesting that the presence of SCA brought significant risk for psychopathology and antisocial behavior. 3,4 Because of the selection bias inherent in these studies, debate ensued as to their accuracy. 5 The need for accurate information about SCA was heightened by its representation in 25% of prenatally diagnosed chromosome disorders.…”

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confidence: 99%

Life adaptation in 35 adults with sex chromosome abnormalities

Bender

Linden

Harmon

2001

Genetics in Medicine

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Purpose: This report from the last phase of the 36-year Denver Study provides information about the adult life adaptation of 35 men and women with sex chromosome abnormalities (SCA) followed since their identification at birth. Methods: Sex chromatin screening of 40,000 consecutive newborns between 1964 and 1974 resulted in the cohort of 35 SCA men and women followed to date since birth. Sixteen chromosomally normal siblings served as controls. Data constituting this report was obtained from formal and informal interviews and psychological testing conducted in the final year of this study. Results: The nonmosaic SCA propositi had lower mean intelligence quotients and psychosocial adjustment scores than did siblings. Consistent with these results, propositi also had lower levels of educational achievement and career success, although most have completed school, married, hold The Denver Study of Sex Chromosome Abnormalities (SCA) began in 1964 with the objective of determining the frequency with which these conditions occur. 1 Results from this and other epidemiological studies established a surprisingly high incidence of 1 in 400 newborns with the addition, deletion, or structural variation of an X or Y chromosome, 2 making SCA the most frequently occurring chromosome abnormality. Four nonmosaic karyotypes were most common: 47,XXY; 45,X; 47,XXX; and 47,XYY. SCA mosaicism, consisting of two or more populations of cells varying in X and Y chromosome constitution, was similarly frequent.The investigation of these conditions has not proceeded without controversy. Early chromosome screening studies established an increased incidence of SCA in prison, mental, and mental-penal populations, suggesting that the presence of SCA brought significant risk for psychopathology and antisocial behavior. 3,4 Because of the selection bias inherent in these studies, debate ensued as to their accuracy. 5 The need for accurate information about SCA was heightened by its representation in 25% of prenatally diagnosed chromosome disorders. 6 Clearly, little was known about the natural life course of the population of individuals with these conditions.The Denver Study and six other longitudinal research programs that followed children with SCA have provided a more balanced picture of the influence of SCA on the developing child, adolescent, and adult, and overall have produced a less pathologic portrayal than that emerging from the early studies of incarcerated adults. 2,[7][8][9][10][11][12][13][14] This report from the last phase of the 36-year Denver Study provides information about the adult life adaptation of 35 SCA men and women, now 26 to 36 years of age, followed since their identification at birth. METHODS SubjectsThe SCA propositi were identified through the sex chromatin screening of 40,000 consecutive Denver newborns between 1964 and 1974. 1 Chromosomal abnormality revealed through the examination of Barr bodies from amniotic membranes was subsequently confirmed by chromosome analysis of peripheral blood cells. Because cytogen...

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“…On the one hand, approximately 1:500-1:900 live male newborns have this complement (3,9,24,39) but very few seem to come to clinical attention; on the other hand, surveys of institutions for the retarded (6,18), the mentally ill (2,12,16,22), the criminally insane (5,9,18,28,30) and the aggressive offender (11,21,23,26,38) have all shown a higher incidence of the XYY complement than would be expected in the general population. Some investigators (4,15) have tried to explain these individuals, in mental institutions and prisons, on the basis of their being tall and therefore more likely to be considered as dangerous by judges and psychiatrists.…”

Section: Introductionmentioning

confidence: 99%

Two New Cases of XYY Chromosome Complement: And a Review of the Literature

Hoffman

1977

Canadian Psychiatric Association Journal

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Two cases with XYY chromosome complement are presented and compared with 153 cases described in the literature. Some patients with abnormalities of personality development and manifest psychopathology may have sex chromosome abnormalities and should be studied further for the interaction of genetic and environmental factors in personality development. In particular, tall, schizoid impulsive men with a history of criminality, arson or sexual offences should be screened for this particular genetic configuration. Because of the biased manner by which most of the cases are found, it is not yet known whether an XYY genotype results in a characteristic phenotype. What is needed is a genetic study of a normal population and a prospective study of newborns with various genotypes which would, unfortunately, create complex research and ethical problems.

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Abnormal Sex Chromosomes and Mental Disorder

Cited by 69 publications

References 63 publications

Triple X syndrome: a review of the literature

Triple X syndrome: a review of the literature

Life adaptation in 35 adults with sex chromosome abnormalities

Two New Cases of XYY Chromosome Complement: And a Review of the Literature

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