Trisomy 9p syndrome and XYY syndrome in siblings

Gustavson, Karl‐Henrik; Wahlström, Jan

doi:10.1111/j.1399-0004.1977.tb01280.x

Cited by 11 publications

(4 citation statements)

References 15 publications

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“…Our data further confirm that bone maturation was significantly delayed in all patients [27] and that many of them may continue to grow up to the age of 20 and thus may partially catch up, even if their adult height may be reduced in comparison with their target height, as was the case in patient 3, who was not treated with hrGH [28]. …”

Section: Discussionsupporting

confidence: 81%

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

et al. 2014

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BackgroundTrisomy 9p is an uncommon anomaly characterised by mental retardation, head and facial abnormalities, congenital heart defects, kidney abnormalities, and skeletal malformations. Affected children may also show growth and puberty retardation with delayed bone age. Auxological and endocrinological data are lacking for this syndrome.MethodsWe describe three girls and one boy with 9p trisomy showing substantial growth failure, and we evaluate the main causes of their short stature.ResultsThe target height was normal in all families, ranging from 0.1 and -1.2 standard deviation scores (SDS). The patients had a low birth-weight (from -1.2 to -2.4 SDS), birth length (from -1.1 to -3.2 SDS), and head circumference (from -0.5 to -1.6 SDS). All patients presented with substantial growth (height) retardation at the time of 9p trisomy diagnosis (from -3.0 to -3.8 SDS).The growth hormone stimulation test revealed a classic growth hormone (GH) deficiency (GHD) in patients 1, 3, and 4. In contrast, patient 2 was determined to have a GH neurosecretory dysfunction (GHNSD). The plasma concentrations of IGF-I and IGFBP-3 were low in all patients for their ages and sexes (from -2.0 to -3.4 SDS, and from -1.9 to -2.8 SDS, respectively).The auxological follow-up showed that those patients who underwent rhGH treatment exhibited a very good response to the GH therapy, whereas patients 3 and 4, whose families chose not to use rhGH treatment, did not experience any significant catch-up growth.ConclusionsGH deficiency appears to be a possible feature of patients with 9p trisomy syndrome. These patients, particularly those with growth delays, should be evaluated for GH secretion.

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Section: Discussionsupporting

confidence: 81%

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis

et al. 2014

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“…the term "syndrome" in our paper "Trisomy 9p syndrome and XYY syndrome in siblings" (Gustavsson & Wahlstrom 1977) is correct. To our knowledge we have at present no specific rules determining when a set of symptoms occurring together may or may not be considered a syndrome.…”

mentioning

confidence: 78%

Letter to the Editors

Wahlström¹,

Gustavsson²

1978

Clinical Genetics

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“…We wish simply to comment upon a recent paper pertaining to the issue of interchromosomal effect and to point out some implications for genetic counseling. Gustavson & Wahlstrom (1977) recently reported "trisomy 9p syndrome and XYY syndrome in siblings." As the authors point out, the XYY karyotype was the result of paternal meiotic nondisjunction or, less likely, mitotic nondisjunction in a normal XY zygote at the first cleavage division (since no evidence of a 46,XY cell line was found).…”

Section: Interchromosomal Effects In Manmentioning

confidence: 99%

“…XYY occurs in about 1 per 1075 newborn males (Hook & Hamerton 19771, and in 7-8-yearold boys the incidence of XYY is in the same range (Patil et al 1977). Therefore, the a priori chance of finding one XYY boy among four brothers in the family studied by Gustavson & Wahlstrom (1977) is about 4 in 1075 or 1 in 270.…”

Section: Interchromosomal Effects In Manmentioning

confidence: 99%