Prenatal finding of a fetus with mosaicism for two balancedde novo chromosome rearrangements

Hastings, Richard P.; Watson, S. G.; Chitty, Lyn S.

doi:10.1002/(sici)1097-0223(199901)19:1<77::aid-pd467>3.0.co;2-k

Cited by 3 publications

(4 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…[45,46] We found many reported breakpoints in other antenatally diagnosed de novo BCR studies, but we also found eight breakpoints that previous studies did not identify. [5,7,[9][10][11][12][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] All those studies primarily included Caucasian and Asian populations, and the majority, as in this study, used cytogenetic banding methods to analyze breakpoints.…”

Section: Discussionmentioning

confidence: 99%

“…[51,52] These three breakpoints (3q13.1, 3q13.2, and 9p12) were not reported in the large-scale studies by Warburton and Giardino, [5,7] in studies in Asia, [9][10][11] or in other studies with smaller sample sizes conducted in Europe, North America and Australia. [12,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46] Rosenberg studied 1056 individuals from 52 populations and found that most genetic variation was within populations; only 3%-5% of genetic variation was due to major group differences. [13] In 2006, Bastos-Rodrigues, using a more sophisticated methodology (a set of 40 biallelic slow-evolving short insertiondeletion polymorphisms) than the one used by Rosenberg, found greater genetic variation (12.1%) across the different population groups and confi rmed Rosenberg's identifi cation of fi ve welldefi ned groups: the Americas, Africa, East Asia, Oceania, and a cluster comprising Europe, the Middle East and Central Asia.…”

Section: Discussionmentioning

confidence: 99%

“…These were: 2p22, 3p24, 3q13.1, 3q13.2, 5p11, 8q21.1, 9p12, and 12q23. [5,7,[9][10][11][12][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] (Figure 1).…”

Section: Distribution Of De Novo Bcr Frequencyunclassified

“…These breakpoints are not reported in the literature consulted on de novo BCR in antenatal diagnosis in the USA and Canada, Europe, Asia and Australia. [5,7,[9][10][11][12][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] Since these breakpoints were associated with severe phenotypic abnormalities and mental disability in carrier individuals, their presence should be carefully considered during antenatal diagnosis and genetic counseling for couples. In such cases, we recommend thorough ultrasound monitoring and molecular techniques, such as FISH and microarray, to supplement diagnosis in order to detect possible cryptic genome aberrations.…”

Section: Original Researchmentioning

confidence: 99%

See 3 more Smart Citations

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

2018

MEDICC Review

View full text Add to dashboard Cite

INTRODUCTIONThe consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they introduce uncertainty into genetic counseling decisions.OBJECTIVE Describe de novo balanced structural aberrations present at antenatal diagnosis in samples from pregnant women in fi ve Latin American countries and determine their effect on carrier individuals. METHODSThis was a retrospective observational study based on analysis of 109,011 antenatal tests conducted from January 1981 to December 2016 in Cuba, Uruguay, Costa Rica, Mexico, and Colombia. Thirteen cytogenetic laboratories provided information that included the cases analyzed during the study period; number of de novo balanced structural aberrations diagnosed antenatally; number of diagnoses with de novo balanced structural aberrations that resulted in termination of pregnancy; detailed descriptions of the karyotypes of de novo balanced structural aberration carriers, and descriptions of the form of diagnosis, including types of samples used (amniotic fl uid, chorionic villus or fetal blood). Each laboratory also provided pathology reports and genetic counseling at time of diagnosis. Postnatal followup for pregnancies carried to term continued for at least two years. RESULTSOf the 109,011 antenatal tests studied, 72 (0.07%) showed de novo balanced structural aberrations. These events primarily involved chromosomes 1, 2, 7, 14, 18, and 20. Of the 79 breakpoints identifi ed, the most common were 5p15.3, 7q11.2, 7q22, and 14q24. We identifi ed three breakpoints corresponding to 3.8% (3q13.1, 3q13.2, and 9p12) that were not reported in other studies of de novo balanced structural aberrations diagnosed antenatally in patients from other geographic regions or in studies of chromosomal fragile sites. Two of these breakpoints (3q13.1 and 3q13.2) were associated with high risk of phenotypic abnormalities. Information on antenatal or postnatal followup was available for 62 (86%) of de novo balanced structural aberration carriers; of the 44 carriers with postnatal followup, 10 had phenotypic abnormalities.CONCLUSIONS Three new de novo breakpoints were identifi ed, presumably related to genetic admixture characteristics in Latin America. Since some diseases associated with de novo balanced structural aberrations detected antenatally have a late onset, followup for at least two years is recommended for carriers of these aberrations. The information in this study is useful in genetic counseling for pregnant women in Latin America.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…These were: 2p22, 3p24, 3q13.1, 3q13.2, 5p11, 8q21.1, 9p12, and 12q23. [5,7,[9][10][11][12][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44] (Figure 1).…”

Section: Distribution Of De Novo Bcr Frequencyunclassified

Section: Original Researchmentioning

confidence: 99%

See 2 more Smart Citations

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

2018

MEDICC Review

View full text Add to dashboard Cite

show abstract

Prenatal diagnosis ofde novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertainedde novo apparently balanced complex and multiple chromosomal rearrangements

et al. 2006

View full text Add to dashboard Cite

show abstract

Structural chromosomal mosaicism and prenatal diagnosis

et al. 2004

View full text Add to dashboard Cite

True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low‐set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd.

show abstract

Prenatal finding of a fetus with mosaicism for two balancedde novo chromosome rearrangements

Cited by 3 publications

References 19 publications

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

Antenatal Diagnosis of De Novo Balanced Structural Chromosome Aberrations in Latin America

Prenatal diagnosis ofde novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertainedde novo apparently balanced complex and multiple chromosomal rearrangements

Structural chromosomal mosaicism and prenatal diagnosis

Contact Info

Product

Resources

About