Do the 48, XXYY males have a characteristic phenotype? A Review

Borgaonkar, Digmber S.; Mules, Emilie H.; Char, F

doi:10.1111/j.1399-0004.1970.tb01644.x

Cited by 23 publications

(19 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These figures do not differ essentially from the mean age of 29 fathers of XXXY sons, which we found on enquiry to be 32-41, SE = 1-42. Nor do they differ from the mean age of 33 fathers of XXYY sons which was 33-39, SE = 1 69 (Borgaonkar, Mules, and Char, 1970).…”

mentioning

confidence: 64%

Origin of 48,XXXY: The Evidence of the Xg Blood Groups

Pfeiffer¹,

Sanger²

1973

Journal of Medical Genetics

View full text Add to dashboard Cite

Summary. A third family is reported in which the Xg groups give information about the origin of an XXXY member: successive non-disjunction at the first and second paternal meiotic divisions is much the most likely cause. In the two previous informative families successive non-disjunction at maternal meiotic divisions was the most likely cause. An enquiry showed the average age of 29 fathers at the birth of XXXY sons to be 32-41 years.

show abstract

mentioning

confidence: 64%

Origin of 48,XXXY: The Evidence of the Xg Blood Groups

Pfeiffer¹,

Sanger²

1973

Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…Height appears to be above the population average, and minor skeletal abnormalities are demonstrable in most 48,XXYY individuals (Borgaonkar et al 1970). classical Klinefelter syndrome.…”

Section: Discussionmentioning

confidence: 91%

“…More than 60 patients with this rare chromosomal constitution have since been reported, and the clinical features of the 48,XXYY syndrome have been delineated (Borgaonkar et al 1970). More than 60 patients with this rare chromosomal constitution have since been reported, and the clinical features of the 48,XXYY syndrome have been delineated (Borgaonkar et al 1970).…”

mentioning

confidence: 99%

Congenital heart disease in the 48,XXYY syndrome

Meschede¹,

Nekarda

Kececioglu

et al. 1995

Clinical Genetics

View full text Add to dashboard Cite

show abstract

“…XXYY individuals have testicular hyalinization which leads to testosterone deficiency, micro‐orchidism, lack of pubertal progression and infertility (Borgaonkar et al . ). Testosterone replacement therapy is usually recommended for those with XXYY (Tartaglia et al .…”

Section: Introductionmentioning

confidence: 97%

“…The majority of XXYY adults score within the borderline (IQ 70–79) to intellectually disabled (IQ <70) range on full scale IQ tests (Borgaonkar et al . ; Tartaglia et al . ; Visootsak & Graham ).…”

Section: Introductionmentioning

confidence: 99%

Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities

Srinivasan

Wolstencroft

Erwood

et al. 2019

J intellect Disabil Res

View full text Add to dashboard Cite

Background The phenotype of children with XXYY has predominantly been defined by comparison to other sex chromosome aneuploidies trisomies affecting male children; however, the intellectual ability of children with XXYY is lower than children with other sex chromosome aneuploidies trisomies. It is not known to what extent the phenotype identified to date is specific to XXYY, rather than a reflection of lower IQ. This study evaluates the mental health and behaviour of children with XXYY, in comparison to children with intellectual disabilities of heterogeneous genetic origin. Methods Fifteen children with XXYY and 30 controls matched for age (4–14 years), sex and intellectual ability were ascertained from the IMAGINE ID study. IMAGINE ID participants have intellectual disabilities due to genetic anomalies confirmed by National Health Service Regional Genetic Centre laboratories. The mental health and behaviour of participants was examined with the Development and Well‐being Assessment and the Strengths and Difficulties Questionnaire. Results Children with XXYY experienced significantly more frequent and intense temper outbursts than the control group. Conclusion Our results suggest that temper outbursts may be specifically associated with the XXYY phenotype. These problems have a significant impact on the daily lives of boys with XXYY and their families. It is crucial to ensure that families are well supported to manage these difficulties.

show abstract

Do the 48, XXYY males have a characteristic phenotype? A Review

Cited by 23 publications

References 51 publications

Origin of 48,XXXY: The Evidence of the Xg Blood Groups

Origin of 48,XXXY: The Evidence of the Xg Blood Groups

Congenital heart disease in the 48,XXYY syndrome

Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities

Contact Info

Product

Resources

About