Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

Fraccaro, M.; Maraschio, P; Pasquali, Francesco; Scappaticci, Susi

doi:10.1007/bf00295421

Cited by 85 publications

(46 citation statements)

References 12 publications

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“…Xp deletions distal to p21 are usually compatible with normal menarche, although secondary amenorrhea may occur (22)(23)(24). By contrast, larger deletions extending into p11.2 are almost always associated with primary amenorrhea.…”

Section: Present Ts Phenotype Mapmentioning

confidence: 99%

Search for the Turner Gene

Zinn

Ross

1997

Clin Pediatr Endocrinol

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Section: Present Ts Phenotype Mapmentioning

confidence: 99%

Search for the Turner Gene

Zinn

Ross

1997

Clin Pediatr Endocrinol

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“…Therefore mother-to-daughter transmission of TS is possible. The first cases of hereditary TS in women with different Xp deletions were published more than three decades ago [2,3]. As a result of this knowledge, the karyotyping of mothers of girls with Xp deletion has been recommended [4], which has led to the identification of additional cases of familial TS [5,6,7,8].…”

Section: Introductionmentioning

confidence: 99%

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

Stoklasova

Kaprova²,

Trková³

et al. 2016

Horm Res Paediatr

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Background: Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature. Case Report: We present a family with vertical transmission of TS that affected six women in four sequential generations. The karyotype was defined as a combination of terminal Xp deletion and terminal Xq duplication: 46,X,rec(X)inv(p21.1q27.3). All affected women had short stature, but had developed spontaneous puberty and normal fertility. Generation IV exclusively received recombinant human growth hormone (rhGH). We investigated the effect of rhGH treatment on skeletal growth and body proportion via the comparison of auxological data from an untreated 39.7-year-old mother to her 14.8-year-old rhGH-treated daughter. The adult height of the daughter was substantially better than that of the mother [160.3 cm (-0.8 SDS) and 150.0 cm (-2.7 SDS), respectively]; however, the disproportion progressed following rhGH treatment and ultimately led to a worse trunk-to-extremities ratio compared with the mother (4.8 and 3.7 SDS, respectively). Conclusion: This rare family confirms the vertical transmission of TS spanning multiple generations. The combination of endogenous estrogen production and exogenous rhGH administration in women with SHOX haploinsufficiency may worsen their body disproportion.

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“…In many of them, their gonadal functions are preserved and there have been some reports dealing with pregnancy and/or delivery among such patients (14)(15)(16)(17)(18)(19)(20)(21).…”

Section: Introductionmentioning

confidence: 99%

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

Ogawa¹,

Kamijo

Asai

et al. 2002

Clin Pediatr Endocrinol

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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.

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Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

Cited by 85 publications

References 12 publications

Search for the Turner Gene

Search for the Turner Gene

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

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

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