Chromosome Xq Duplication Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

Chromosome Xq duplication syndrome, Chromosome Xq trisomy, Dup(Xq) syndrome

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Introduction

Duplication of the long arm of chromosome X with growth retardation, developmental delays, seizures, behavioral problems, gonadal dysgenesis, and symptoms of Ullrich-Turner XO syndrome, a syndrome wherein the affected patients have only 45 chromosomes producing an XO chromosome constitution, occurring with webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and other anomalies.

100 Clinical Results associated with Chromosome Xq Duplication Syndrome

100 Translational Medicine associated with Chromosome Xq Duplication Syndrome

0 Patents (Medical) associated with Chromosome Xq Duplication Syndrome

Literatures (Medical) associated with Chromosome Xq Duplication Syndrome

18 Aug 2021·Clinical and Experimental ImmunologyQ3 · MEDICINE

Non-organ-specific autoimmunity in adult 47,XXY Klinefelter patients and higher-grade X-chromosome aneuploidies

Q3 · MEDICINE

Article

Author: Tiberti, Claudio ; Gianfrilli, Daniele ; Sorice, Maurizio ; Riitano, Gloria ; Spaziani, Matteo ; Lucania, Giuseppe ; Lenzi, Andrea ; Panimolle, Francesca ; Anzuini, Antonella ; Radicioni, Antonio F

AbstractCurrent literature regarding systemic autoimmune diseases in X-chromosome aneuploidies is scarce and limited to case reports. Our aim was to evaluate the frequency of anti-nuclear (ANAs), extractable nuclear (ENA), anti-double-stranded DNA (dsDNAs), anti-smooth muscle (ASMAs) and anti-mitochondrial (AMAs) antibodies in a large cohort of adults with Klinefelter's syndrome (KS, 47,XXY) and rare higher-grade sex chromosome aneuploidies (HGAs) for the first time. Sera from 138 X-chromosome aneuploid patients [124 adult patients with 47,XXY KS and 14 patients with HGA (six children, eight adults)] and 50 age-matched 46,XY controls were recruited from the Sapienza University of Rome (2007–17) and tested for ANAs, ENAs, anti-dsDNAs, ASMAs and AMAs. Non-organ-specific immunoreactivity was found to be significantly higher in patients with 47,XXY KS (14%) than in the controls (2%, p = 0.002). Among all the antibodies investigated, only ANAs were observed significantly more frequently in patients with 47,XXY KS (12.1%) than in the controls (2%, p = 0.004). No anti-dsDNA immunoreactivity was found. Stratifying by testosterone replacement therapy (TRT), non-organ-specific autoantibody frequencies were higher in TRT-naive (p = 0.01) and TRT-treated groups than in controls. No patients with HGA were found positive for the various autoantibodies. Non-organ-specific autoantibodies were significantly present in 47,XXY adult patients. Conversely, HGAs did not appear to be target of non-organ-specific immunoreactivity, suggesting that KS and HGAs should be considered as two distinct conditions. The classification and diagnosis of systemic autoimmune diseases is frequently difficult. To support a correct clinical evaluation of KS disease and to prevent eventual secondary irreversible immune-mediated damages, we highlight the importance of screening for non-organ-specific autoimmunity in Klinefelter's syndrome.

01 Dec 2020·International Journal of Pediatric Endocrinology

A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review

Author: Zaffagnini, Stefano ; Gaudino, Rossella ; Pucci, Mairi ; Antoniazzi, Franco ; Parissone, Francesca ; Santangelo, Elisabetta ; Zuffardi, Orsetta ; Cavarzere, Paolo ; Piacentini, Giorgio ; Franchi, Massimo ; Cantalupo, Gaetano ; Meneghelli, Emanuela ; Di Paola, Rossana

AbstractBackgroundXq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X. Sometimes short stature and diminished ovarian reserve (DOR) may be present. Treatments with rGH (Recombinant growth Hormon) or with fertility preservation strategies have not been previously described.Case presentationWe present the case of a female with a novel de novo Xq partial duplication (karyotype: 46,Xder(X)(qter→q21.31::pter→qter) confirmed by array-CGH analysis. She presented with short stature, Nonverbal Learning Disability, developmental delay during childhood, severe scoliosis, spontaneous onset of menarche and irregular menstrual cycles. AMH (Anti-Müllerian Hormone) allowed detection of a preserved but severely diminished ovarian reserve with a POI (Premature Ovarian insufficiency) onset risk. She was effectively subjected to fertility preservation strategies and rGH therapy. We also reviewed other published cases with Xq duplication, reporting the main clinics characteristics and any adopted treatment.ConclusionsrGH treatment and cryopreservation in a multidisciplinary approach are good therapeutic strategies for Xq duplication syndrome with short stature and premature ovarian failure.

19 May 2018·AutoimmunityQ4 · MEDICINE

Evidence of increased humoral endocrine organ-specific autoimmunity in severe and classic X-chromosome aneuploidies in comparison with 46,XY control subjects

Q4 · MEDICINE

Article

Author: Tiberti, Claudio ; Granato, Simona ; Pozza, Carlotta ; Anzuini, Antonella ; Radicioni, Antonio F. ; Panimolle, Francesca ; Lenzi, Andrea

OBJECTIVEIn literature, the importance of X-linked gene dosage as a contributing factor for autoimmune diseases is generally assumed. However, little information is available on the frequency of humoral endocrine organ-specific autoimmunity in X-chromosome aneuploidies. In our preliminary study, we investigated the endocrine organ-specific humoral autoimmunity relative to four different organ-specific autoimmune diseases in a group of adult 47,XXY KS patients and in adults 46,XY control males (type 1 diabetes, T1DM; Addison's disease, AD; Hashimoto thyroiditis, HT; autoimmune chronic atrophic gastritis, AG). The aim of the present study is to evaluate the frequency of autoantibodies (Abs) specific for T1DM, AD, HT, and AG in rarer higher grade X-chromosome aneuploidies (HGA) and in 47,XXY children.DESIGN AND METHODSSamples from 192 Caucasian patients with an X-chromosome aneuploidy (176 patients (55 children, 121 adults) with 47,XXY karyotype (KS patients) and 16 HGA patients (eight children, eight adults)) recruited from Sapienza, University of Rome (2007-2017) were tested for Abs specific for T1DM (insulin-Abs, GAD-Abs, IA-2-Abs, Znt8-Abs), HT (TPO-Abs), AD (21-OH-Abs), and AG (APC-Abs). The results were compared to those found in 213 46,XY control subjects (96 children, 117 adults).RESULTSAltogether humoral organ-specific immunoreactivity was found in 13% of KS and HGA patients, with a significantly higher frequency than in the controls (p=.008). Almost 19% of HGA patients were positive for at least one of the organ-specific Abs investigated compared to 12.5% of KS patients. The frequency of the overall immunoreactivity was higher in KS children than in KS adults. The frequency of diabetes-specific Abs was significantly higher in the patient cohort than in controls (p=.005). Thyroid- and gastric-specific autoimmunity was also found in KS and HGA patients, while adrenal-specific immunoreactivity was rare.CONCLUSIONSThese results suggest for the first time that the risk of endocrine organ-specific humoral autoimmunity progressively increases with the severity of X-chromosome polisomy. The screening for diabetes-, thyroid-, and gastric-specific autoimmunity should be considered in clinical practice for identifying rare and classic X-chromosome aneuploid patients at risk of developing organ-specific autoimmune diseases.

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Chromosome Xq Duplication Syndrome

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