Prenatal diagnosis of occipital encephalocele, mega‐cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p

Wu, Yu‐Chung; Fang, Jye‐Siung; Lee, Kuei-Fang; Estipona, Judy; Yang, Meifang; Yuan, Chiou‐Chung

doi:10.1002/pd.543

Cited by 10 publications

(6 citation statements)

References 22 publications

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“…In the first report of tetrasomy 20p, Wu et al [] reported a 24‐week gestation fetus with multiple congenital anomalies including occipital encephalocele, mega cisterna magna, mesomelic shortening of long bones, bowing of ulna, fracture of both femora, right tibia, as well as clubfoot. Fetal blood sampling showed tetrasomy 20p with the karyotype 47,XX,+i(20)(p10) in all cells analyzed.…”

Section: Discussionmentioning

confidence: 99%

“…Both cases were complicated by oligohydramnios and fetal growth restriction, with congenital heart defect, osteopenia, and long bone bowing or fractures. The fetus in the Fryer et al [] report had bilateral renal agenesis, while Wu et al [] reported no renal anomalies detected on ultrasound scan. Pure 20p tetrasomy appears to be lethal.…”

Section: Discussionmentioning

confidence: 99%

“…Tetrasomy 20p is a rare chromosome abnormality, reported only twice in the literature [Wu et al, ; Fryer et al, ]. Each was a report of a fetus with multiple congenital anomalies.…”

Section: Introductionmentioning

confidence: 99%

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Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures

Maziad

Seaver

2015

American J of Med Genetics Pt A

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Tetrasomy 20p is a very rare chromosome abnormality, with only two single cases previously reported in the literature, both fetuses with multiple congenital anomalies, osteopenia, and fractures. We report on the first case of mosaic tetrasomy 20p in a 13-year-old male. Amniocentesis karyotype showed mosaicism (73% of cells) for a supernumerary marker chromosome, an isodicentric chromosome 20p. At birth, cord blood karyotype was normal in all cells but uroepithelial cells showed the marker chromosome in 30% of cells analyzed. Chromosomal single nucleotide polymorphism (SNP) microarray using buccal cells confirmed the previous result with mosaicism estimated at 59% of cells. His course has been complicated by profound osteoporosis with recurrent nontraumatic fractures and vertebral compression leading to significant disability. This report describes the phenotype and evaluation of mosaic pure tetrasomy 20p syndrome and compares to nonmosaic tetrasomy 20p and trisomy 20p syndromes, both of which have been previously reported in association with osteopenia and fractures. The pathophysiology of osteoporosis in tetrasomy 20p is unknown. We hypothesize that overexpression of bone morphogenetic protein 2 may be the underlying mechanism of osteoporosis and recurrent fractures.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures

Maziad

Seaver

2015

American J of Med Genetics Pt A

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“…In contrast, although numerous duplications have all been reported in association with a specific neural tube defect (Table II) [Wright et al, 1974; Allderdice et al, 1975; Fear and Briggs, 1979; Stamberg et al, 1981; Bader et al, 1984; Zumel et al, 1989; Schinzel, 1994; Kennedy et al, 2000; Wu et al, 2003], neural tube defects are relatively infrequent component manifestations of these duplications, so it is difficult to speculate the importance of these loci.…”

Section: Chromosome Anomaliesmentioning

confidence: 99%

“… References: Wright et al [1974]; Allderdice et al [1975]; Fear and Briggs [1979]; Stamberg et al [1981]; Bader et al [1984]; Zumel et al [1989]; Schinzel [1994]; Lurie et al [1995]; Winsor et al [1997]; Hol et al [2000]; Kennedy et al [2000]; Wellesley and Boyle [2000]; Doray et al [2003]; Wu et al [2003]. …”

Section: Chromosome Anomaliesmentioning

confidence: 99%

Non‐multifactorial neural tube defects

Lynch

2005

American J of Med Genetics Pt C

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Although most neural tube defects (anencephaly, spina bifida) occur as isolated malformations, a substantial proportion are attributable to chromosome anomalies, known teratogens, or component manifestations of multiple anomaly syndromes. This review describes known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural tube defects and causative genes, if known. ß 2005 Wiley-Liss, Inc.

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Syndromic encephalocele in a fetal case with a 1p35‐pter deletion and a 14q32‐qter duplication inherited from a maternal balanced translocation

Thauvin‐Robinet

Callier

Laurent³

et al. 2007

Prenatal Diagnosis

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Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel-Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, bilateral multicystic kidneys, enlarged bladder and urethral atresia. The fetal chromosome analysis showed a maternally inherited unbalanced translocation between the short arm of chromosome 1 and the long arm of chromosome 14, resulting in 1p35-pter deletion and 14q32-qter duplication (46,XY,der(1),t(1;14)(p35;q32)). Since the chromosomal breakpoints have not previously been implicated in syndromic encephalocele, this observation is of interest for the identification of other genes responsible for occipital encephalocele.

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Prenatal diagnosis of occipital encephalocele, mega‐cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p

Cited by 10 publications

References 22 publications

Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures

Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures

Non‐multifactorial neural tube defects

Syndromic encephalocele in a fetal case with a 1p35‐pter deletion and a 14q32‐qter duplication inherited from a maternal balanced translocation

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