11 May 2026
: Case report 
Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity
Congenital defects / diseases
Weiwei Zeng ABCDEFG 1, Sheng Lin BCDE 2, Junge Zheng BCD 3, Zheng Zheng BCD 4, Cunhai Li BCF 5, Guihua Yang BCF 5, Jilong Yao AE 1, Shan Duan ACDEF 3,6*DOI: 10.12659/AJCR.951645
Am J Case Rep 2026; 27:e951645
Table 2 Other complex chromosomal abnormalities in familial Turner syndrome.
| Author | Karyotypes or genotypes | Patients’ relationship | Phenotype of proband | Laboratory results |
|---|---|---|---|---|
| Kim et al (1974) []23 | Daughter: 46,X,+t(X;X)(p22;q13); Mother: 45,X/46,X,+t(X;X)(p22;q13) | Daughter and mother | Short statureSecondary amenorrheaWidely spaced nipplesCubitus valgusLow nuchal hairlineMinimal breast developmentInfantile clitoris | Increased gonadotrophins |
| Stoklasova et al (2016) []6 | 46,X,rec(X) inv(p21.1q27.3) | 6 women in 4 generations | Short statureSpontaneous pubertyNormal fertility | Normal gonadotropin levels |
| Ayuso et al (1984) []26 | Daughter: 45,X/46,Xr(X); Mother: 45,X/46,XX/47,XXX | Daughter and mother | Recurrent abortionsShort statureCubitus valgusGenu varumHigh-arched palateLow-set auriclesMultiple pigmented neviDysplastic right kidneyNormal secondary sex characteristics and external genitaliaNormal menses | Normal 17-OH and 17-CO steroid levels |
| Blumenthal and Allanson (1997) []27 | 45,X/46,X,r(X) | Mother and daughter | Short statureWebbed neckCubitus valgusShield chestAbsence of secondary sexual characteristicsRegular menstrual cycles (on HRT)3 pregnanciesEarly menopause at age 27 | NA |
| Midro et al (1988) []24 | Proband: 46,X,dic(X)(qter→cen→p11:: p11→cen→qter); Aunt: 45,X/46,X,dic(X)(pter→q21:: q21→pter) (78/22) | Niece and aunt | PAShort statureScanty axillary and pubic hairTanner stage 3 breast developmentShield chestSlight webbed neckDermatoglyphic abnormalitiesInfantile external genitaliaLaparoscopy findings: small infantile uterus, normal fallopian tubes, no left gonad, streak right gonad | FSH 30 mIU/mLLH 46.5 mIU/mLFibrous tissue without follicles in right gonad |
| Davis et al (1976) []25 | Patients: 46,X,del(X)(pter→p11); Carriers: 46,X,Xp-,16q+,t(X;16)(Xpter→Xp11: : 16q24→16pter) | Two sisters (carriers: mother and another sister) | PAShort statureSpina bifidaShield chestNo breast development or axillary hairSparse pubic hairInfantile external and internal genitalia | Moderate hypothyroidismDelayed bone age |
| Tyrkus et al (1989) []4 | 45,X/46,X,r(X)/46,X,der(X)(Xqter→Xq22: : Xp22→Xqter) | Niece and aunt | Short statureWidely spaced nipplesCubitus valgusHigh-arched palateBilateral serous otitis media | FSH 11 mIU/mLLH 2 mIU/mL |
| Aller et al (1995) []28 | 46,X,dup(X)(qter→q13: : p11.4→qter) | Two daughters and mother | Short statureCubitus valgusCongenital cleft palate | FSH 8.5 mU/LLH 8.7 mU/LHypothyroidismDelayed bone age |
| Cetin et al (2011) []29 | Proband: 45,X,t(4;16)(p15.2;p13.1)/46,X,i(X)(q10),t(4;16)(p15.2;p13.1); Carriers: 45,X,t(4;16)(p15.2;p13.1)/46,XX,t(4;16)(p15.2;p13.1)/47,XXX,t(4;16)(p15.2;p13.1) | Proband (carriers: mother and another sister) | PAShort stature, undeveloped breastsAbsent ovariesHypoplastic uterus | LH 29.30 mIU/mLFSH 74.81 mIU/mLEstradiol 15.12 pg/mLTSH 5.92 μIU/mL |
| Portnoï et al (2012) []30 | Mother: 45,X/46,X,der(X)t(X;Y)(p11.4;p11.2); Daughter: 47,X,der(X)t(X;Y)×2/46,X,der(X)t(X;Y) | Mother and daughter | Short statureMild cubitus valgusMultiple pigmented neviLow antral follicle countMild coarctation of aortaSpontaneous menarche (on GH therapy)Spontaneous pregnancy | Normal FSH and LHLow AMH (0.14 ng/mL) |
| Wandstrat et al (2000) []9 | 46,X,rec(X),dup q,inv(X)(p22.32q26.3) | Mother and anencephalic fetus | Short statureTwo pregnancy lossesPOF | NA |
| FSH – follicle-stimulating hormone; LH – luteinizing hormone; NA – not available; PA – primary amenorrhea; POF – premature ovarian failure; TSH – thyroid-stimulating hormone. | ||||