English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised.  We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization analysis using Sex-determining Region Y probe revealed no signal on the derivative Y chromosome.  At the admittance, height was 84.5 cm (− 1.24 SDS); SPAN was 79 cm; sitting height: 72.4 cm; weight was 17.5 kg. Bone age was 1.2 years. Multiplex Ligation Probe Amplification showed a heterozygous deletion of the Short Stature Homeobox-containing gene and of the pseudoautosomal region-1. This result correlated with Leri-Weill Syndrome. She started Growth Hormone treatment, with a good response.  The case described shows a rare translocation, involving the X chromosome and including SHOX gene and the pseudoautosomal region-1. At our knowledge, this is the first case of a patient with a karyotype 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2) and Short Stature Homeobox-containing gene haploinsufficiency, successfully treated with Growth Hormone.

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency