The Parental Origin of the Single X Chromosome in Turner Syndrome: Lack of Correlation with Parental Age or Clinical Phenotype

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1991 Apr 1

PMID 1673045

Citations 23

Authors

A Mathur

L Stekol

D Schatz

N K Maclaren

M L Scott

B Lippe

Affiliations

Soon will be listed here.

Abstract

We have used X- and Y-linked RFLPs to determine the origin of the single X chromosome in 25 live-born individuals with Turner syndrome. We determined that 18 individuals retained a maternal X (Xm) and that seven retained the paternal X (Xp). No occult mosaicism was detected. We found no differences in either maternal or paternal ages for the two groups. The ratio of maternal X to paternal X is just over 2:1, which is consistent with the expected proportion of meiotic or mitotic products, with equal loss at each step, given the nonviability of 45,Y. Six phenotypic or physiologic characteristics were assessed: (1) birth weight, (2) height percentile at time of testing, (3) presence of a webbed neck, (4) cardiovascular abnormalities, (5) renal abnormalities, and (6) thyroid autoimmunity. There were no significant differences in birth weights or heights between the girls who retained the maternal X or the paternal X. In addition, no differences between the groups could be appreciated in the incidence of the physical, anatomic, or physiologic parameters assessed.

Citing Articles

Competing endogenous RNA network analysis of Turner syndrome patient-specific iPSC-derived cardiomyocytes reveals dysregulation of autosomal heart development genes by altered dosages of X-inactivation escaping non-coding RNAs.

Luo Y, Chen Y, Ge L, Zhou G, Chen Y, Zhu D Stem Cell Res Ther. 2023; 14(1):376.

PMID: 38124119 PMC: 10734062. DOI: 10.1186/s13287-023-03601-3.

PGCLCs of human 45,XO reveal pathogenetic pathways of neurocognitive and psychosocial disorders.

Shang D, Lan T, Wang Y, Li X, Liu Q, Dong H Cell Biosci. 2022; 12(1):194.

PMID: 36457060 PMC: 9716775. DOI: 10.1186/s13578-022-00925-0.

Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome.

Hall S, Riley M, Weston R, Lepage J, Hong D, Jo B J Autism Dev Disord. 2021; 52(1):16-27.

PMID: 33751331 PMC: 9662592. DOI: 10.1007/s10803-021-04896-y.

Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART).

Poornima S, Daram S, Devaki R, Qurratulain H J Reprod Infertil. 2020; 21(4):269-274.

PMID: 33209743 PMC: 7648875. DOI: 10.18502/jri.v21i4.4331.

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence.

Kyritsi E, Kanaka-Gantenbein C Front Endocrinol (Lausanne). 2020; 11:543.

PMID: 32973676 PMC: 7466763. DOI: 10.3389/fendo.2020.00543.

References

Torfs C, VAN DEN BERG B, OECHSLI F, Christianson R . Thyroid antibodies as a risk factor for Down syndrome and other trisomies. Am J Hum Genet. 1990; 47(4):727-34. PMC: 1683787. View

May K, Jacobs P, Lee M, Ratcliffe S, Robinson A, Nielsen J . The parental origin of the extra X chromosome in 47,XXX females. Am J Hum Genet. 1990; 46(4):754-61. PMC: 1683670. View

Hassold T, Kumlin E, Takaesu N, Leppert M . Determination of the parental origin of sex-chromosome monosomy using restriction fragment length polymorphisms. Am J Hum Genet. 1985; 37(5):965-72. PMC: 1684699. View

Hall J . Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet. 1988; 43(4):355-63. PMC: 1715487. View

Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G . Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989; 51(1-4):622-947. DOI: 10.1159/000132810. View

Hassold T, Benham F, Leppert M . Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet. 1988; 42(4):534-41. PMC: 1715233. View

Germain E, Plotnick L . Age-related anti-thyroid antibodies and thyroid abnormalities in Turner syndrome. Acta Paediatr Scand. 1986; 75(5):750-5. DOI: 10.1111/j.1651-2227.1986.tb10285.x. View

Vadheim C, Rotter J, Maclaren N, Riley W, Anderson C . Preferential transmission of diabetic alleles within the HLA gene complex. N Engl J Med. 1986; 315(21):1314-8. DOI: 10.1056/NEJM198611203152103. View

Lyon A, Preece M, Grant D . Growth curve for girls with Turner syndrome. Arch Dis Child. 1985; 60(10):932-5. PMC: 1777486. DOI: 10.1136/adc.60.10.932. View

10.

Stagnaro-Green A, Roman S, Cobin R, Davies T . Detection of at-risk pregnancy by means of highly sensitive assays for thyroid autoantibodies. JAMA. 1990; 264(11):1422-5. View

11.

Warburton D, Kline J, Stein Z, Susser M . Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet. 1980; 1(8161):167-9. DOI: 10.1016/s0140-6736(80)90658-3. View

12.

Hook E, Warburton D . The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet. 1983; 64(1):24-7. DOI: 10.1007/BF00289473. View

13.

Riley W, Maclaren N, Lezotte D, Spillar R, Rosenbloom A . Thyroid autoimmunity in insulin-dependent diabetes mellitus: the case for routine screening. J Pediatr. 1981; 99(3):350-4. DOI: 10.1016/s0022-3476(81)80316-2. View

14.

Carothers A, Frackiewicz A, De Mey R, Collyer S, POLANI P, OSZTOVICS M . A collaborative study of the aetiology of Turner syndrome. Ann Hum Genet. 1980; 43(4):355-68. DOI: 10.1111/j.1469-1809.1980.tb01570.x. View

15.

Kajii T, Ohama K . Inverse maternal age effect in monosomy X. Hum Genet. 1979; 51(2):147-51. DOI: 10.1007/BF00287168. View

16.

Burns J, Hall J, Powers E, Callis J, Hoehn H . No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45, XO Turner syndrome. Clin Genet. 1979; 15(1):22-8. DOI: 10.1111/j.1399-0004.1979.tb02025.x. View

17.

Rigby P, Dieckmann M, Rhodes C, Berg P . Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977; 113(1):237-51. DOI: 10.1016/0022-2836(77)90052-3. View

18.

van der Putte S . Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich. Virchows Arch A Pathol Anat Histol. 1977; 376(3):233-46. DOI: 10.1007/BF00432399. View

19.

Pai G, Leach D, WEISS L, Wolf C, Van Dyke D . Thyroid abnormalities in 20 children with Turner syndrome. J Pediatr. 1977; 91(2):267-9. DOI: 10.1016/s0022-3476(77)80827-5. View

20.

SANGER R, Tippett P, Gavin J, Teesdale P, Daniels G . Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum. J Med Genet. 1977; 14(3):210-1. PMC: 1013559. DOI: 10.1136/jmg.14.3.210. View