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

Censani M, Anyane-Yeboa K, Wapner R, Spiegel E, Guzman E, Oberfield SE - Int J Pediatr Endocrinol (2013)

Bottom Line: The patient's fetal long bones had been found to be about three weeks delayed in growth on prenatal ultrasound during the second trimester.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, Columbia University Medical Center, PH5E-522, 622 West 168th Street, New York, NY 10032, USA.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

Pedigree of the family.
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Figure 1: Pedigree of the family.

Mentions: The male index patient (IV: 1, Figure 1) was the first child of Caucasian non-consanguinous parents. He was born at 39½ weeks gestation with a normal birth weight of 2.95 kg, (25th centile), and length 50 cm (50th centile). On prenatal ultrasound, fetal long bones were found to be about three weeks delayed in growth during the second trimester. The infant underwent genetic evaluation at 23 days of life since the father had been previously diagnosed with Leri-Weill syndrome with a documented SHOX deletion on his X chromosome del (X)(p22.33p22.33) confirmed by FISH using a SHOX gene probe. The father’s deletion was confirmed with a FISH probe specific for the SHOX gene. On examination, the patient measured 51.5 cm (25-50th centile) and weighed 3.45 kg (10-25th centile) with head circumference of 36 cm (25th centile). Although physical examination was unremarkable, a DNA microarray study was performed to rule out the presumed extremely small possibility of the deletion crossing over to the Y chromosome of the index patient (IV: 1, Figure 1).


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

Censani M, Anyane-Yeboa K, Wapner R, Spiegel E, Guzman E, Oberfield SE - Int J Pediatr Endocrinol (2013)

Pedigree of the family.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3716959&req=5

Figure 1: Pedigree of the family.
Mentions: The male index patient (IV: 1, Figure 1) was the first child of Caucasian non-consanguinous parents. He was born at 39½ weeks gestation with a normal birth weight of 2.95 kg, (25th centile), and length 50 cm (50th centile). On prenatal ultrasound, fetal long bones were found to be about three weeks delayed in growth during the second trimester. The infant underwent genetic evaluation at 23 days of life since the father had been previously diagnosed with Leri-Weill syndrome with a documented SHOX deletion on his X chromosome del (X)(p22.33p22.33) confirmed by FISH using a SHOX gene probe. The father’s deletion was confirmed with a FISH probe specific for the SHOX gene. On examination, the patient measured 51.5 cm (25-50th centile) and weighed 3.45 kg (10-25th centile) with head circumference of 36 cm (25th centile). Although physical examination was unremarkable, a DNA microarray study was performed to rule out the presumed extremely small possibility of the deletion crossing over to the Y chromosome of the index patient (IV: 1, Figure 1).

Bottom Line: The patient's fetal long bones had been found to be about three weeks delayed in growth on prenatal ultrasound during the second trimester.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, Columbia University Medical Center, PH5E-522, 622 West 168th Street, New York, NY 10032, USA.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus