A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father

Fanglin Wei, Sou Cheng, Nicole Badie, Frederick Elder, Charles Scott, Linda Nicholson, Judith L. Ross, Andrew R. Zinn

Research output: Contribution to journalArticle

14 Scopus citations


We report on a man with neurofibromatosis type 1 (NF1) and Leri-Weill dyschondrosteosis (LWD). His father had NF1. His mother had LWD plus additional findings of Turner syndrome (TS): high arched palate, bicuspid aortic valve, aortic stenosis, and premature ovarian failure. The proband's karyotype was 46,X,dic(X;Y)(p22.3;p11.32). Despite having almost the same genetic constitution as 47,XXY Klinefelter syndrome, he was normally virilized, although slight elevation of serum gonadotropins indicated gonadal dysfunction. His mother's karyotype was mosaic 45,X[17 cells]/46,X,dic(X;Y)(p22.3; p11.32)[3 cells].ish dic(X;Y)(DXZ1+,DYZ1+). The dic(X;Y) chromosome was also positive for Y markers PABY, SRY, and DYZ5, but negative for SHOX. The dic(X;Y) chromosome was also positive for X markers DXZ1 and a sequence <300 kb from PABX, suggesting that the deletion encompassed only pseudoautosomal sequences. Replication studies indicated that the normal X and the dic(X;Y) were randomly inactivated in the proband's lymphocytes. LWD in the proband and his mother was explained by SHOX haploinsufficiency. The mother's female phenotype was most likely due to 45,X mosaicism. This family segregating Mendelian and chromosomal disorders illustrates extreme sex chromosome variation compatible with normal male and female sexual differentiation. The case also highlights the importance of karyotyping for differentiating LWD and TS, especially in patients with findings such as premature ovarian failure or aortic abnormalities not associated with isolated SHOX haploinsufficiency.

Original languageEnglish (US)
Pages (from-to)353-358
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - Sep 1 2001



  • Leri-Weill dyschondrosteosis
  • Mosaicism
  • Pseudoautosomal region
  • SHOX
  • SRY
  • Sex chromosome abnormalities
  • Turner syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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