Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

International Journal of Pediatric Endocrinology

Sharon E Oberfield¹  Edwin Guzman³  Erica Spiegel²  Ronald Wapner²  Kwame Anyane-Yeboa³  Marisa Censani⁴ 

[1] Columbia University Medical Center, 622 West 168th Street, PH 5E-522, New York, NY 10032, USA;Department of Maternal Fetal Medicine, Columbia University Medical Center, 3959 Broadway, 12 Central, Room 1207, New York, NY 10032, USA;Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center, 3959 Broadway, 6 N-601A, New York, NY 10032, USA;Department of Pediatrics, Division of Pediatric Endocrinology, Columbia University Medical Center, PH5E-522, 622 West 168th Street, New York, NY 10032, USA

关键词: SHOX;    Short stature;    Pseudoautosomal region 1;    Madelung deformity;    Leri-Weill syndrome;   

Others  :  812549
DOI  :  10.1186/1687-9856-2013-11

 received in 2013-02-20, accepted in 2013-05-30,  发布年份 2013

【 摘 要 】

Background

Leri-Weill syndrome (LWS) is a genetic disorder caused by deletions or mutations in the SHOX gene or by deletions downstream of the gene and is classically characterized by short stature, mesomelic shortening of forearms and legs, and Madelung deformity. Correct identification of short stature homeobox-containing gene (SHOX) deficiency in children with growth problems is vital for appropriate initiation of growth hormone therapy.

Method

We report a phenotypically normal 23 day old male infant born to a father diagnosed with Leri-Weill syndrome at age 12 years with a documented SHOX deletion on his X chromosome. The patient’s fetal long bones had been found to be about three weeks delayed in growth on prenatal ultrasound during the second trimester.

Results

The infant underwent genetic evaluation at 23 days of life and was found to have a SHOX deletion on Yp11.32 identified using single nucleotide polymorphism microarray (SNP) analysis and confirmed by FISH using a SHOX gene probe.

Conclusion

We report the case of a male infant diagnosed with Leri-Weill syndrome with an unusual documented inheritance between father and son due to crossover between X and Y chromosomes during paternal meiosis. Our case is the youngest patient in literature documented by FISH analysis to have an X to Y chromosome transfer and the first of these patients diagnosed prior to onset of short stature or Madelung deformity. Our patient was identified prior to growth failure and can now be monitored for growth abnormalities with the ability to implement growth augmentation therapy without delay. Our case highlights the importance of advising affected SHOX patients of risks to future offspring and supports screening off-spring of parents carrying SHOX abnormalities regardless of sex.

【 授权许可】

   
2013 Censani et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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