Prenatal diagnosis of <b><i>de novo</i></b> trisomy 1(q21‐qter)der(Y)t(Y;1) in a malformed live born

Mc, Fernández-Novoa; Mt, Vargas; Granell, M.; Carreto, Práxedes

doi:10.1002/pd.847

Cited by 14 publications

(14 citation statements)

References 6 publications

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“…T risomy 1q is a rare severe chromosomal abnormality with most prenatal diagnoses representing incomplete duplication of the long arm of chromosome 1. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] A characteristic phenotype has been derived from physical and autopsy findings in affected offspring. 5 We describe the prenatal sonographic features associated with 1 case each of complete and partial trisomy1q and summarize the sonographic findings in previously reported complete and partial trisomy 1q.…”

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confidence: 99%

Prenatal sonographic features of trisomy 1q

Wax

Carpenter

Chard

et al. 2007

J of Clinical Ultrasound

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We describe the sonographic features of trisomy 1q in 2 affected fetuses and identify 17 other published reports of this entity in the literature. Four of 5 (80%) diagnoses made at < or = 14 weeks' gestation demonstrated increased nuchal translucency or cystic hygroma colli. During the second and third trimesters, findings included cerebral ventriculomegaly (n = 8 [57%]), nuchal skin fold > or = 6 mm or cystic hygroma colli (n = 5 [36%]), urinary anomalies (n = 5 [36%]), digit malformations (n = 5 [36%]), and abnormal amniotic fluid volume (n = 6 [40%]). Findings in trisomy 1q may be influenced by coexisting chromosomal deletions or mosaicism. Sonographic features generally reflect the location and size of the 1q duplication.

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confidence: 99%

Prenatal sonographic features of trisomy 1q

Wax

Carpenter

Chard

et al. 2007

J of Clinical Ultrasound

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“…q32, are considered lethal [Dupont et al, 1994]. There are seven previously reported cases of complete translocation trisomy for 1q, some of which have identical chromosomal breakpoints [Pettenati et al, 2001;Zeng et al, 2003;Fernandez-Novoa et al, 2004;Machlitt et al, 2005]. We present a case of a liveborn male with complete trisomy 1q in mosaic form due to a de novo unbalanced translocation.…”

Section: Introductionmentioning

confidence: 91%

Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas

Scheuerle

Heller

Elder

2005

American J of Med Genetics Pt A

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We present a case of a liveborn male with complete trisomy 1q in mosaic form due to a de novo unbalanced translocation. There are seven previously documented cases of complete trisomy for 1q, which demonstrate that this is a lethal condition. All cases have similar phenotype including weights greater than 50th centile for gestational age, hydrocephalus, microphthalmia, abnormal ears, small mouth or jaw, and abnormal fingers. Single umbilical artery, imperforate anus, and dysplastic kidneys are also seen in more than one patient. Five of the eight translocation cases have identical chromosomal breakpoints involving 1q and Yq. This suggests the possibility of sequence similarities on these two chromosomes as has been documented with several other recurrent chromosomal rearrangements. Further, this case demonstrates the need for postnatal genetics evaluation following prenatal diagnosis. In postnatal testing, the aneuploidy could not be demonstrated in metaphase cells from cultured lymphocytes. More detailed testing prompted by abnormal amniocentesis and neonatal dysmorphology was necessary to confirm the cytogenetic diagnosis. Without the prenatal diagnosis, it is likely that the true cytogenetic aberration would have gone undetected.

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“…At present, over 20 prenatal cases have been reported. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] The fetal phenotype in the first or second trimester of pregnancy has still not been well defined from the data of echographic and post-mortem examinations. Although several authors have tried to establish genotype/phenotype correlations, at present a wide variability in the phenotype is reported, even in patients with similar 1q duplications, both in prenatal and postnatal cases.…”

Section: Introductionmentioning

confidence: 99%

Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature

Cambosu¹,

Capobianco²,

Fogu³

et al. 2012

J of Obstet and Gynaecol

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Partial trisomy of the long arm of chromosome 1 is a relatively rare cytogenetic anomaly. Its phenotype has still not been completely defined, because of the cytogenetic heterogeneity of the cases so far described. We report a prenatal case of partial 1q trisomy associated with partial monosomy 4q, secondary to balanced maternal translocation t(1;4). The trisomic segment extended from 1q31.1 to qter and the monosomy 4q was from 4q35.2 to qter. The phenotypic anomalies found by post-mortem and autopsy examinations were compared with those of similar cases reported in the literature. We performed standard cytogenetics and fluorescence in situ hybridization. Cerebral ventriculomegaly, present in our case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with ventriculomegaly.

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Prenatal diagnosis of de novo trisomy 1(q21‐qter)der(Y)t(Y;1) in a malformed live born

Abstract: Our patient's clinical anomalies were compared with two cases of trisomy 1q in all cells and five mosaicisms with the object of defining this syndrome, which we consider important for future genetic counselling.

Cited by 14 publications

References 6 publications

Prenatal sonographic features of trisomy 1q

Prenatal sonographic features of trisomy 1q

Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas

Partial trisomy of the long arm of chromosome 1: Prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature

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