Transmission of Del(X)(p11.2) from Mother to Daughter.

Abstract

We report here a girl (the proband) and her mother with del(X)(p11.2) showing few somatic stigmata of the typical Turner syndrome. The proband exhibited short stature, cubitus valgus, short 4th metacarpal, multiple pigmented nevi and epicanthal fold, while her mother exhibited short stature, cubitus valgus, and short 4th metacarpal. Pubertal changes occurred in both of them. The mother had menarche at 12 years and menopause at 37 years 7 months, indicating premature ovarian failure. The grandmother of the proband had cubitus valgus but normal karyotype. There were many patients with thyroid disease on both their paternal and maternal sides. The proband and her mother had overt hypothyroidism, compensated hypothyroidism, and euthyrodism respectively, though all of them showed positive antithyroid antibodies. In Turner patients with del(Xp), there are many important issues, including determination of the loci of some genes on the X chromosome and genetic counseling.