Censani Marisa, Anyane-Yeboa Kwame, Wapner Ronald, Spiegel Erica, Guzman Edwin, Oberfield Sharon E
Department of Pediatrics, Division of Pediatric Endocrinology, Columbia University Medical Center, PH5E-522, 622 West 168th Street, 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.
Int J Pediatr Endocrinol. 2013;2013(1):11. doi: 10.1186/1687-9856-2013-11. Epub 2013 Jun 28.
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.
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.
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.
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.
勒里-韦伊综合征（LWS）是一种由SHOX基因缺失或突变或该基因下游缺失引起的遗传性疾病，其典型特征为身材矮小、前臂和腿部中段缩短以及马德隆畸形。正确识别生长发育问题儿童中的含矮小同源框基因（SHOX）缺陷对于适当启动生长激素治疗至关重要。
我们报告了一名23日龄表型正常的男婴，其父亲在12岁时被诊断为勒里-韦伊综合征，X染色体上有记录的SHOX缺失。在孕中期产前超声检查中发现该患者的胎儿长骨生长延迟约三周。
该男婴在出生23天时接受了基因评估，通过单核苷酸多态性微阵列（SNP）分析确定其Yp11.32存在SHOX缺失，并使用SHOX基因探针通过荧光原位杂交（FISH）得以证实。
我们报告了一例诊断为勒里-韦伊综合征的男婴病例，由于父亲减数分裂期间X染色体和Y染色体之间的交叉，父子之间存在不同寻常的遗传记录。我们的病例是文献中通过FISH分析记录的最年轻的具有X染色体到Y染色体转移的患者，也是这些患者中第一个在身材矮小或马德隆畸形出现之前被诊断出来的。我们的患者在生长发育迟缓之前就被识别出来了，现在可以监测其生长异常情况，并能够及时实施生长促进治疗。我们的病例强调了向受影响的SHOX患者告知对未来后代的风险的重要性，并支持对携带SHOX异常的父母的后代进行筛查，无论性别如何。
