Two cases of tetrasomy 9p syndrome with tissue limited mosaicism

Lloveras, Elisabet; Pérez, Cynthia; Solé, Françesc; Zamora, Lurdes; Lladonosa, A.; Espinet, Blanca; Silvestre, E; Serra, J.P.C.; Vendrell, Teresa; Fernández, Borja; Salido, Marta; Plaja, Alberto

doi:10.1002/ajmg.a.20447

Cited by 20 publications

(34 citation statements)

References 22 publications

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“…There are approximately only 12 previous cases of tetrasomy 9p diagnosed prenatally because the abnormal chromosome is more frequently detected in peripheral blood cultures and can be absent in skin, amniotic fluid, or chorionic villous cell cultures. 10 In our case, we performed amniocentesis at 17 weeks and karyotype analysis showed a complete tetrasomy of the short arm of chromosome 9.…”

Section: Discussionmentioning

confidence: 92%

“…2,3 Many of these characteristics are seen in prenatal sonogram. A review of 19 cases [2][3][4][8][9][10][11][12][13][14][15][16][17][18] of tetrasomy 9p already published shows that ventriculomegaly (58%), intrauterine growth restriction (58%), genitourinary anomaly (47%), hypoplastic/absent cerebellar vermis (42%), cleft lip/palate (42%), and limb malformation (42%) are the remarkable US features (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…3 Also, the isochromosome 9p shows a strong propensity for tissue selection, and its detection may be difficult in cytogenetic prenatal diagnostic studies. 5,[9][10][11] In fact, prenatal diagnosis of tetrasomy 9p remains uncommon. There are approximately only 12 previous cases of tetrasomy 9p diagnosed prenatally because the abnormal chromosome is more frequently detected in peripheral blood cultures and can be absent in skin, amniotic fluid, or chorionic villous cell cultures.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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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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“…The majority of these cases exhibit a normal karyotype in lymphocytes with mosaicism for the chromosomal abnormality in fibroblasts. In contrast, tetrasomy for 9p appears in the opposite configuration, occurring at higher frequency in lymphocytes than in fibroblasts [Papenhausen et al, 1990;Lloveras et al, 2004].…”

Section: Introductionmentioning

confidence: 74%

Tissue‐limited mosaicism for monosomy 13

Golabi

James

Good

et al. 2010

American J of Med Genetics Pt A

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Karyotypic discordance between different tissues in an individual is uncommon. We report on a patient with multiple congenital anomalies and mosaicism for monosomy 13 limited to fibroblasts. Findings include microcephaly, agenesis of the corpus callosum, bilateral posterior colobomas, cataract and optic nerve dysplasia, patent foramen ovale, renal hypoplasia, hypospadias and unilateral inguinal hernia, unilateral hypoplasia of the lower limb, sparse and patchy hair, subtle pigmentary mosaicism, and global developmental delay. The lymphocyte karyotype was normal, whereas the fibroblast karyotype showed mosaicism for a del(13)(q11→ter). Review of the literature identified three previous reports of similar patients with multiple congenital anomalies, normal lymphocyte karyotype, and subsequent, diagnostic fibroblast karyotyping. Comparison of the previously reported patients with the patient reported here defines a common phenotype for tissue-limited mosaicism for monosomy 13 consisting of prenatal-onset growth deficiency; microcephaly; facial abnormalities including prominent nasal bridge, hypertelorism, ptosis, epicanthal folds, microphthalmia, coloboma, retinoblastoma, prominent maxilla, micrognathia, and low-set ears; limb abnormalities including small to absent thumbs, clinodactyly of fifth finger, fused metacarpal bones 4 and 5, talipes equinovarus, and short first toe; cardiac defect; renal anomalies; and genitalia abnormalities including hypospadias and cryptorchidism. In conclusion, this case further emphasizes that fibroblast karyotyping should be employed when the diagnosis remains unclear, especially in the presence of pigmentary mosaicism or segmental hypoplasia.

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“…In peripheral blood, the isochromosome is often found in all, or a very high proportion of cells, whereas in fibroblasts, amniotic fluid and chorionic villi, it is present in a lower proportion of cells, or not at all . Therefore, missing the abnormality prenatally by amniocentesis or chorionic villus sampling is a concern .…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and findings of tetrasomy 9p

Lazebnik

Cohen

2015

J of Obstet and Gynaecol

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Tetrasomy 9p is a rare condition initially reported by Ghymers et al. Reported cases are a mix of prenatal and neonatal/pediatric cases in non-mosaic and mosaic cases. We report on the common mechanism leading to this form of chromosome abnormality, the various types of tetrasomy 9p as well as the prenatal sonographic and laboratory presentation of our case and previously reported cases with mosaic and non-mosaic tetrasomy 9p. From these reported cases, a recognizable syndrome is emerging. Multiple fetal abnormalities amenable to ultrasound diagnosis are likely to be present. However, neither ultrasound study alone nor the first-trimester screen for the common aneuploidies can suggest the correct diagnosis. Chromosome study of more than a single tissue is necessary in order to establish the correct diagnosis and to differentiate between mosaic and non-mosaic tetrasomy 9p cases.

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Two cases of tetrasomy 9p syndrome with tissue limited mosaicism

Cited by 20 publications

References 22 publications

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

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

Tissue‐limited mosaicism for monosomy 13

Prenatal diagnosis and findings of tetrasomy 9p

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