Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy‐Walker variant and trigonocephaly

Chen, Chih‐Ping; Tzen, Chin‐Yuan; Chang, Tung-Yao; Lin, Chen‐Ju; Wang, Wayseen; Lee, Chen‐Chi; Town, Dai-Dyi; Chen, Lifeng; Lee, Meng-Shan

doi:10.1002/pd.471

Cited by 16 publications

(13 citation statements)

References 10 publications

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“…According to our observation of the prenatal phenotype in 11qter deletion cases, hyperechogenic bowel should be appended to the previously described features: Thickening of the NT [McClelland et al, 1998], growth retardation, and shortening of the femurs and humeri [Wax et al, 1995;Chen et al, 2002;Chen et al, 2004]. Moreover, our data show that the size of the deletion is not critical for the severity of the phenotype.…”

Section: Discussionmentioning

confidence: 50%

“…The expansion of array technologies in the last few years has permitted the precise characterization of the deletions and detailed genotype/phenotype correlations in postnatal cases of JBS. [Penny et al, 1995;Wax et al, 1995;Chen et al, 1997;McClelland et al, 1998;Porter et al, 1999;Chen et al, 2002;Favier et al, 2003;Chen et al, 2004;Grossfeld et al, 2004;Boehm et al, 2006] …”

Section: Discussionmentioning

confidence: 99%

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SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

Trková

Bečvářová

Hynek

et al. 2012

American J of Med Genetics Pt A

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Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia.

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Section: Discussionmentioning

confidence: 50%

Section: Discussionmentioning

confidence: 99%

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

Trková

Bečvářová

Hynek

et al. 2012

American J of Med Genetics Pt A

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“…3,4,9,11 Also, complete and partial trisomy 9p was described in association with Dandy-Walker malformation. 4,19 Abnormal cerebellar development has been associated with numerous chromosomal disorders, 6 and a variety of different chromosomal (up to 18) and genetic syndromes (up to 40) show correlation with Dandy-Walker malformation. 7 Chen et al 19 suggest that a dosage effect of genes located on 9pter->p11.2 may be responsible for abnormal development of central nervous system in the presence of complete or partial trisomy 9p.…”

Section: Discussionmentioning

confidence: 99%

Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy‐Walker malformation

Nakamura‐Pereira

Cima

Llerena

et al. 2009

J of Clinical Ultrasound

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We report a case of a 23-year-old pregnant woman, who underwent amniocentesis after ultrasound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US evaluation in the second trimester revealed Dandy-Walker malformation, ventriculomegaly, bilateral clubfoot, lip and palate clefts, arthrogryposis and hyperechoic kidneys with bilateral pelvic dilatation. At 30 weeks of gestation, a placental abruption was noted and a Cesarean section was performed. The infant died shortly after birth. A review of previous cases of tetrasomy 9p shows that the remarkable sonographic findings are ventriculomegaly, intrauterine growth restriction, genitourinary anomaly, Dandy-Walker malformation, cleft lip/palate and limb malformation, but the association of tetrasomy 9p and increased nuchal translucency had not been reported.

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“…Two other cases were reported in 2 separate pregnancies from the same family both of which were terminated. For 1 pregnancy, the 17-week-old fetus was found to have frontal bossing, prominent eyes, temporal indentation, trigonocephaly, a square face, hypertelorism with epicanthus, a broad nose, a carp-shaped mouth, micrognathia, a short neck, and agenesis of the cerebellar vermis [Chen et al, 2002], while the other fetus was found to have hypotelorism, a depressed nasal bridge, orofacial clefts, and holoprosencephaly-premaxillary agenesis [Chen et al, 2008]. Karyotype from amniocentesis was 46,XX,der(11)t(3; 11) (p21;q23)pat.…”

Section: Discussionmentioning

confidence: 99%

“…Two further reports described the detection of this karyotype during prenatal diagnosis for 2 offspring (a male and a female) in a Taiwanese family [Chen et al, 2002[Chen et al, , 2008. In all of these cases, standard karyotyping was done to detect the chromosomal abnormalities with no further attempt to delineate the breakpoints.…”

mentioning

confidence: 99%

Partial Trisomy 3p and Partial Monosomy 11q Associated with Atrial Septal Defect, Cleft Palate, and Developmental Delay: A Case Report

Tan

Lim

Cham

et al. 2011

Cytogenet Genome Res

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Unbalanced translocation involving both chromosome 3p duplication and 11q deletion in the same patient is extremely rare; only 1 live-born case was reported previously. This karyotype was also detected during prenatal diagnosis of 2 different pregnancies in a Taiwanese family which were both terminated. In all 3 cases, only standard karyotyping was done to detect the abnormal karyotypes. Here, we report a 4-year-old boy with cleft palate, atrial septal defect, and hypotonia with gross and fine motor delay. Oligonucleotide-based array comparative genomic hybridization showed copy number gain from 3pter to 3p24.2 (approximately 24.5 Mb) and copy number loss from 11q25 to 11qter (approximately 5.8 Mb). This de novo unbalanced translocation event involving a terminal 3p duplication and a terminal 11q deletion provides candidate genes for further investigation of dosage effect leading to the patient’s multiple phenotypic abnormalities. Genotype-phenotype correlation is difficult to make in this case due to the large number of genes involved. However, the description of such cases together with precise gene-level mapping of chromosomal breakpoints will add to further refinement of candidate genes to be investigated for terminal imbalances in 3p and 11q when more similar cases are reported.

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Prenatal diagnosis of partial trisomy 3p and partial monosomy 11q in a fetus with a Dandy‐Walker variant and trigonocephaly

Cited by 16 publications

References 10 publications

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy‐Walker malformation

Partial Trisomy 3p and Partial Monosomy 11q Associated with Atrial Septal Defect, Cleft Palate, and Developmental Delay: A Case Report

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